71 results on '"Benigni M."'
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2. P100 HYNOTIC COMMUNICATION IN INTERVENTIONAL CARDIOLOGY: OUR REALITY…………
- Author
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Benigni, M, primary, Civalleri, M, additional, and Sartelli, S, additional
- Published
- 2022
- Full Text
- View/download PDF
3. Prophylactic heparin and risk of orotracheal intubation or death in patients with mild or moderate COVID-19 pneumonia
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Vergori, A., Lorenzini, P., Cozzi-Lepri, A., Donno, D. R., Gualano, G., Nicastri, E., Iacomi, F., Marchioni, L., Campioni, P., Schinina, V., Cicalini, S., Agrati, C., Capobianchi, M. R., Girardi, E., Ippolito, G., Vaia, F., Petrosillo, N., Antinori, A., Taglietti, F., The ReCOVeRI Study Group: Abbonizio, M. A., Abdeddaim, A., Agostini, E., Albarello, F., Amadei, G., Amendola, A., Antonica, M. A., Antonini, M., Bartoli, T. A., Baldini, F., Barbaro, R., Bartolini, B., Bellagamba, R., Benigni, M., Bevilacqua, N., Biava, G., Bibas, M., Bordi, L., Bordoni, V., Boumis, E., Branca, M., Buonomo, R., Busso, D., Camici, M., Canichella, F., Capone, A., Caporale, C., Caraffa, E., Caravella, I., Carletti, F., Castilletti, C., Cataldo, A., Cerilli, S., Cerva, C., Chiappini, R., Chinello, P., Cianfarani, M. A., Ciaralli, C., Cimaglia, C., Cinicola, N., Ciotti, V., Colavita, F., Corpolongo, A., Cristofaro, M., Curiale, S., D'Abramo, A., Dantimi, C., De Angelis, A., De Angelis, G., De Palo, M. G., De Zottis, F., Di Bari, V., Di Lorenzo, R., Di Stefano, F., D'Offizi, G., Evangelista, F., Faraglia, F., Farina, A., Ferraro, F., Fiorentini, L., Frustaci, A., Fusetti, M., Fusto, M., Galati, V., Gagliardini, R., Galli, P., Garotto, G., Gaviano, I., Tekle, S. G., Giancola, M. L., Giansante, F., Giombini, E., Granata, G., Greci, M. C., Grilli, E., Grisetti, S., Iaconi, M., Iannicelli, G., Inversi, C., Lalle, E., Lamanna, M. E., Lanini, S., Lapa, D., Lepore, L., Libertone, R., Lionetti, R., Liuzzi, G., Loiacono, L., Lucia, A., Lufrani, F., Macchione, M., Maffongelli, G., Marani, A., Mariano, A., Marini, M. C., Maritti, M., Mastrobattista, A., Mastrorosa, I., Matusali, G., Mazzotta, V., Mencarini, P., Meschi, S., Messina, F., Micarelli, S., Mogavero, G., Mondi, A., Montalbano, M., Montaldo, C., Mosti, S., Murachelli, S., Musso, M., Nardi, M., Navarra, A., Nocioni, M., Noto, P., Noto, R., Oliva, A., Onnis, I., Ottou, S., Palazzolo, C., Pallini, E., Palmieri, F., Palombi, G., Pareo, C., Passeri, V., Pelliccioni, F., Penna, G., Petrecchia, A., Petrone, A., Pianura, E., Pinnetti, C., Pisciotta, M., Piselli, P., Pittalis, S., Pontarelli, A., Proietti, C., Puro, V., Ramazzini, P. M., Rianda, A., Rinonapoli, G., Rosati, S., Rubino, D., Rueca, M., Ruggeri, A., Sacchi, A., Sampaolesi, A., Sanasi, F., Santagata, C., Scarabello, A., Scarcia, S., Scognamiglio, P., Scorzolini, L., Stazi, G., Strano, G., Taibi, C., Taloni, G., Nardi, T., Tonnarini, R., Topino, S., Tozzi, M., Vairo, F., Valli, M. B., Vincenzi, L., Visco-Comandini, U., Vita, S., Vittozzi, P., Zaccarelli, M., Zanetti, A., Zito, S., Vergori, A., Lorenzini, P., Cozzi-Lepri, A., Donno, D. R., Gualano, G., Nicastri, E., Iacomi, F., Marchioni, L., Campioni, P., Schinina, V., Cicalini, S., Agrati, C., Capobianchi, M. R., Girardi, E., Ippolito, G., Vaia, F., Petrosillo, N., Antinori, A., Taglietti, F., Abbonizio, M. A., Abdeddaim, A., Agostini, E., Albarello, F., Amadei, G., Amendola, A., Antonica, M. A., Antonini, M., Bartoli, T. A., Baldini, F., Barbaro, R., Bartolini, B., Bellagamba, R., Benigni, M., Bevilacqua, N., Biava, G., Bibas, M., Bordi, L., Bordoni, V., Boumis, E., Branca, M., Buonomo, R., Busso, D., Camici, M., Canichella, F., Capone, A., Caporale, C., Caraffa, E., Caravella, I., Carletti, F., Castilletti, C., Cataldo, A., Cerilli, S., Cerva, C., Chiappini, R., Chinello, P., Cianfarani, M. A., Ciaralli, C., Cimaglia, C., Cinicola, N., Ciotti, V., Colavita, F., Corpolongo, A., Cristofaro, M., Curiale, S., D'Abramo, A., Dantimi, C., De Angelis, A., De Angelis, G., De Palo, M. G., De Zottis, F., Di Bari, V., Di Lorenzo, R., Di Stefano, F., D'Offizi, G., Evangelista, F., Faraglia, F., Farina, A., Ferraro, F., Fiorentini, L., Frustaci, A., Fusetti, M., Fusto, M., Galati, V., Gagliardini, R., Galli, P., Garotto, G., Gaviano, I., Tekle, S. G., Giancola, M. L., Giansante, F., Giombini, E., Granata, G., Greci, M. C., Grilli, E., Grisetti, S., Iaconi, M., Iannicelli, G., Inversi, C., Lalle, E., Lamanna, M. E., Lanini, S., Lapa, D., Lepore, L., Libertone, R., Lionetti, R., Liuzzi, G., Loiacono, L., Lucia, A., Lufrani, F., Macchione, M., Maffongelli, G., Marani, A., Mariano, A., Marini, M. C., Maritti, M., Mastrobattista, A., Mastrorosa, I., Matusali, G., Mazzotta, V., Mencarini, P., Meschi, S., Messina, F., Micarelli, S., Mogavero, G., Mondi, A., Montalbano, M., Montaldo, C., Mosti, S., Murachelli, S., Musso, M., Nardi, M., Navarra, A., Nocioni, M., Noto, P., Noto, R., Oliva, A., Onnis, I., Ottou, S., Palazzolo, C., Pallini, E., Palmieri, F., Palombi, G., Pareo, C., Passeri, V., Pelliccioni, F., Penna, G., Petrecchia, A., Petrone, A., Pianura, E., Pinnetti, C., Pisciotta, M., Piselli, P., Pittalis, S., Pontarelli, A., Proietti, C., Puro, V., Ramazzini, P. M., Rianda, A., Rinonapoli, G., Rosati, S., Rubino, D., Rueca, M., Ruggeri, A., Sacchi, A., Sampaolesi, A., Sanasi, F., Santagata, C., Scarabello, A., Scarcia, S., Scognamiglio, P., Scorzolini, L., Stazi, G., Strano, G., Taibi, C., Taloni, G., Nardi, T., Tonnarini, R., Topino, S., Tozzi, M., Vairo, F., Valli, M. B., Vincenzi, L., Visco-Comandini, U., Vita, S., Vittozzi, P., Zaccarelli, M., Zanetti, A., and Zito, S.
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Male ,medicine.medical_treatment ,Rome ,Kaplan-Meier Estimate ,030204 cardiovascular system & hematology ,Severity of Illness Index ,0302 clinical medicine ,Retrospective Studie ,Coagulopathy ,Clinical endpoint ,Intubation ,Respiratory function ,030212 general & internal medicine ,Multidisciplinary ,Middle Aged ,Medicine ,Female ,Human ,medicine.medical_specialty ,Patients ,medicine.drug_class ,Science ,Low molecular weight heparin ,Risk Assessment ,Article ,NO ,03 medical and health sciences ,Internal medicine ,Severity of illness ,medicine ,Intubation, Intratracheal ,Humans ,Retrospective Studies ,Aged ,business.industry ,SARS-CoV-2 ,COVID-19 ,Thrombocytopenia ,Retrospective cohort study ,Heparin, Low-Molecular-Weight ,medicine.disease ,Respiration, Artificial ,COVID-19 Drug Treatment ,respiratory tract diseases ,Pneumonia ,Viral infection ,business - Abstract
Prophylactic low molecular weight heparin (pLMWH) is currently recommended in COVID-19 to reduce the risk of coagulopathy. The aim of this study was to evaluate whether the antinflammatory effects of pLMWH could translate in lower rate of clinical progression in patients with COVID-19 pneumonia. Patients admitted to a COVID-hospital in Rome with SARS-CoV-2 infection and mild/moderate pneumonia were retrospectively evaluated. The primary endpoint was the time from hospital admission to orotracheal intubation/death (OTI/death). A total of 449 patients were included: 39% female, median age 63 (IQR, 50–77) years. The estimated probability of OTI/death for patients receiving pLMWH was: 9.5% (95% CI 3.2–26.4) by day 20 in those not receiving pLMWH vs. 10.4% (6.7–15.9) in those exposed to pLMWH; p-value = 0.144. This risk associated with the use of pLMWH appeared to vary by PaO2/FiO2 ratio: aHR 1.40 (95% CI 0.51–3.79) for patients with an admission PaO2/FiO2 ≤ 300 mmHg and 0.27 (0.03–2.18) for those with PaO2/FiO2 > 300 mmHg; p-value at interaction test 0.16. pLMWH does not seem to reduce the risk of OTI/death mild/moderate COVID-19 pneumonia, especially when respiratory function had already significantly deteriorated. Data from clinical trials comparing the effect of prophylactic vs. therapeutic dosage of LMWH at various stages of COVID-19 disease are needed.
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- 2021
4. SARS-CoV-2 isolation from ocular secretions of a patient with COVID-19 in Italy with prolonged viral RNA detection
- Author
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Colavita F., Lapa D., Carletti F., Lalle E., Bordi L., Marsella P., Nicastri E., Bevilacqua N., Giancola M. L., Corpolongo A., Ippolito G., Capobianchi M. R., Castilletti C., Abbonizio M. A., Agrati C., Albarello F., Amadei G., Amendola A., Antonini M., Barbaro R., Bartolini B., Benigni M., Bordoni V., Branca M., Campioni P., Caporale C., Caravella I., Chiappini R., Ciaralli C., Cristofaro M., Curiale S., D'Abramo A., Dantimi C., de Angelis A., de Angelis G., Di Lorenzo R., Di Stefano F., Ferraro F., Fiorentini L., Frustaci A., Galli P., Garotto G., Giansante F., Giombini E., Greci M. C., Lanini S., Lepore L., Lucia A., Lufrani F., Macchione M., Marani A., Marchioni L., Mariano A., Marini M. C., Maritti M., Matusali G., Meschi S., Messina F., Montaldo C., Murachelli S., Noto R., Palazzolo C., Pallini E., Passeri V., Pelliccioni F., Petrecchia A., Petrone A., Petrosillo N., Pianura E., Pisciotta M., Pittalis S., Proietti C., Puro V., Rinonapoli G., Rueca M., Sacchi A., Sanasi F., Santagata C., Scarcia S., Schinina V., Scognamiglio P., Scorzolini L., Stazi G., Vaia F., Vairo F., Valli M. B., Colavita, F., Lapa, D., Carletti, F., Lalle, E., Bordi, L., Marsella, P., Nicastri, E., Bevilacqua, N., Giancola, M. L., Corpolongo, A., Ippolito, G., Capobianchi, M. R., Castilletti, C., Abbonizio, M. A., Agrati, C., Albarello, F., Amadei, G., Amendola, A., Antonini, M., Barbaro, R., Bartolini, B., Benigni, M., Bordoni, V., Branca, M., Campioni, P., Caporale, C., Caravella, I., Chiappini, R., Ciaralli, C., Cristofaro, M., Curiale, S., D'Abramo, A., Dantimi, C., de Angelis, A., de Angelis, G., Di Lorenzo, R., Di Stefano, F., Ferraro, F., Fiorentini, L., Frustaci, A., Galli, P., Garotto, G., Giansante, F., Giombini, E., Greci, M. C., Lanini, S., Lepore, L., Lucia, A., Lufrani, F., Macchione, M., Marani, A., Marchioni, L., Mariano, A., Marini, M. C., Maritti, M., Matusali, G., Meschi, S., Messina, F., Montaldo, C., Murachelli, S., Noto, R., Palazzolo, C., Pallini, E., Passeri, V., Pelliccioni, F., Petrecchia, A., Petrone, A., Petrosillo, N., Pianura, E., Pisciotta, M., Pittalis, S., Proietti, C., Puro, V., Rinonapoli, G., Rueca, M., Sacchi, A., Sanasi, F., Santagata, C., Scarcia, S., Schinina, V., Scognamiglio, P., Scorzolini, L., Stazi, G., Vaia, F., Vairo, F., and Valli, M. B.
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Isolation (health care) ,Coronavirus disease 2019 (COVID-19) ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Eye ,NO ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,Medicine ,Viral rna ,030304 developmental biology ,0303 health sciences ,SARS-CoV-2 ,business.industry ,COVID-19 ,RNA ,Pneumonia ,General Medicine ,Conjunctivitis ,medicine.disease ,Letters: Observations ,Virology ,3. Good health ,Viral replication ,030221 ophthalmology & optometry ,business ,Viral load ,COVID-19, Conjunctivitis, Eye, Pneumonia, SARS-CoV-2 - Abstract
Background: Coronavirus disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that originated in China in December 2019, was recently recognized as pandemic threat by the World Health Organization, with the potential of rapidly overloading health care systems and causing substantial mortality worldwide (www.who.int/dg/speeches/detail/who-director-general -s-opening-remarks-at-the-media-briefing-on-covid-19 —11-march -2020). Human-to-human transmission occurs mainly through respiratory droplets, but other routes are under investigation, because SARS-CoV-2 has been detected in several body fluids (1). So far, few data are available on ocular samples from patients with COVID-19, although conjunctivitis has been occasionally reported among COVID-19 symptoms, similar to infections caused by other human coronaviruses (2, 3). During the SARS epidemic, eye exposure to infectious fluids was associated with an increased risk for SARS-CoV transmission to health care workers (3, 4). Although SARS-CoV RNA was occasionally found in ocular specimens during the early phase of illness, its infectivity is unknown (2, 3). With regard to COVID-19, unprotected ocular exposure was thought to be responsible for infections that occurred in the Wuhan Fever Clinic in January 2020 (3, 4); in addition, SARS-CoV-2 RNA was detected in conjunctival secretions collected from the only patient with conjunctivitis out of 30 patients with COVID-19 from a hospital in China (5). However, further studies are needed to evaluate the infectious potential of the SARS-CoV-2 RNA detected in the ocular specimens and to determine whether transmission may occur through ocular secretions (3, 4). Objective: To present the early detection of infectious SARS-CoV-2 in ocular fluids from a patient with the first confirmed case of COVID-19 in Italy, who had been hospitalized at the National Institute for Infectious Diseases “L. Spallanzani” (INMI) in Rome. Methods and Findings: The patient, a 65-year-old woman, travelled from Wuhan, China, to Italy on 23 January 2020 and was admitted on 29 January 2020, 1 day after symptom onset. At admission to the high isolation unit at INMI, she presented with nonproductive cough, sore throat, coryza, and bilateral conjunctivitis. She had no fever until day 4, when fever (38 °C), nausea, and vomiting began. Infection with SARS-CoV-2 was confirmed by performing real-time reverse transcription polymerase chain reaction (RT-PCR) assay on sputum samples (cycle threshold value [Ct], 16.1) on the admission day, followed by viral M gene sequencing (GenBank accession number MT008022), and virus isolation on Vero E6 cell line (2019-nCoV/Italy-INMI1). The full genome sequence was obtained from either clinical sample or culture isolate (GISAID accession numbers EPI_ISL_410545 and EPI_ISL_410546). At admission, no other respiratory infections were detected (QIAstat-Dx Respiratory Panel; Qiagen).
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- 2020
5. Exploration de la diversité génétique des chicorées endives, frisées, scaroles, en vue de la sélection de résistance à Phytophthora cryptogea et Sclerotinia sclerotiorum. Innovations Agronomiques 84, 155-166
- Author
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Cassan, L., Benigni, M., Desplanches, C., Serrano, H., Leignez, S., Coquin, P., Tommasi, S., and Saindrenan, P.
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- 2021
- Full Text
- View/download PDF
6. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
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Bandres‐Ciga, S, Noyce, AJ, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Arosio, A, Barberis, M, Bartolomei, I, Battistini, S, Benigni, M, Borghero, G, Brunetti, M, Cammarosano, S, Cannas, A, Canosa, A, Capasso, M, Caponnetto, C, Caredda, C, Carrera, P, Casale, F, Cavallaro, S, Chiò, A, Colletti, T, Conforti, FL, Conte, A, Corrado, L, Costantino, E, D'Alfonso, S, Fasano, A, Femiano, C, Ferrarese, C, Fini, N, Floris, G, Fuda, G, Giannini, F, Grassano, M, Ilardi, A, La Bella, V, Lattante, S, Logroscino, G, Logullo, FO, Loi, D, Lunetta, C, Mancardi, G, Mandich, P, Mandrioli, J, Manera, U, Marangi, G, Marinou, K, Marrali, G, Marrosu, MG, Mazzini, L, Melis, M, Messina, S, Moglia, C, Monsurro, MR, Mosca, L, Occhineri, P, Origone, P, Pani, C, Penco, S, Petrucci, A, Piccirillo, G, Pirisi, A, Pisano, F, Pugliatti, M, Restagno, G, Ricci, C, Rita Murru, M, Riva, N, Sabatelli, M, Salvi, F, Santarelli, M, Sideri, R, Simone, I, Spataro, R, Tanel, R, Tedeschi, G, Tranquilli, S, Tremolizzo, L, Trojsi, F, Volanti, P, Zollino, M, Abramzon, Y, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Chia, R, Cooper‐Knock, J, Cusi, D, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, Faghri, F, Feldman, E, Kay Floeter, M, Fratta, P, Geiger, JT, Gerhard, G, Gibbs, JR, Gibson, SB, Glass, JD, Hardy, J, Harms, MB, Heiman‐Patterson, TD, Hernandez, DG, Jansson, L, Kamel, F, Kirby, J, Kowall, NW, Laaksovirta, H, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering‐Brown, S, Pioro, E, Pliner, HA, Pulst, SM, Ravits, JM, Renton, AE, Rivera, A, Robbrecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Salvi, E, Scholz, SW, Sendtner, M, Shaw, PJ, Sidle, KC, Simmons, Z, Singleton, AB, Stone, DC, Sulkava, R, Tienari, PJ, Traynor, BJ, Trojanowski, JQ, Troncoso, JC, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Stone, DJ, Bandres-Ciga, Sara, Noyce, Alastair J., Hemani, Gibran, Nicolas, Aude, Calvo, Andrea, Mora, Gabriele, Arosio, Alessandro, Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Benigni, Michele, Borghero, Giuseppe, Brunetti, Maura, Cammarosano, Stefania, Cannas, Antonino, Canosa, Antonio, Capasso, Margherita, Caponnetto, Claudia, Caredda, Carla, Carrera, Paola, Casale, Federico, Cavallaro, Sebastiano, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Corrado, Lucia, Costantino, Emanuela, D'Alfonso, Sandra, Fasano, Antonio, Femiano, Cinzia, Ferrarese, Carlo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Giannini, Fabio, Grassano, Maurizio, Ilardi, Antonio, La Bella, Vincenzo, Lattante, Serena, Logroscino, Giancarlo, Logullo, Francesco O., Loi, Daniela, Lunetta, Christian, Mancardi, Gianluigi, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Marangi, Giuseppe, Marinou, Kalliopi, Marrali, Giuseppe, Marrosu, Maria Giovanna, Mazzini, Letizia, Melis, Maurizio, Messina, Sonia, Moglia, Cristina, Monsurro, Maria Rosaria, Mosca, Lorena, Occhineri, Patrizia, Origone, Paola, Pani, Carla, Penco, Silvana, Petrucci, Antonio, Piccirillo, Giovanni, Pirisi, Angelo, Pisano, Fabrizio, Pugliatti, Maura, Restagno, Gabriella, Ricci, Claudia, Rita Murru, Maria, Riva, Nilo, Sabatelli, Mario, Salvi, Fabrizio, Santarelli, Marialuisa, Sideri, Riccardo, Simone, Isabella, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Volanti, Paolo, Zollino, Marcella, Abramzon, Yevgeniya, Arepalli, Sampath, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexi, Broach, Jame, Campbell, Roy H., Camu, William, Chia, Ruth, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Eicher, John D., Faghri, Faraz, Feldman, Eva, Kay Floeter, Mary, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Hernandez, Dena G., Jansson, Lilja, Kamel, Freya, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Macgowan, Daniel J. L., Maragakis, Nicholas J., Mouzat, Kevin, Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Rivera, Alberto, Robbrecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Singleton, Andrew B., Stone, David C., Sulkava, Raimo, Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Stone, David J., Van Damme, P, Bandres-Ciga, S, Noyce, A, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Tienari, P, Stone, D, Nalls, M, Singleton, A, Chiò, A, Traynor, Bryan, J, Tremolizzo, L, Department of Neurosciences, Neurologian yksikkö, Clinicum, HUS Neurocenter, Translational neuroradiology unit [Bethesda], National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH), Univ Granada, Hosp Univ Granada, Inst Invest Biosanitaria Ibs GRANADA, Escuela Andaluza Salud Publ, Granada, Spain, Partenaires INRAE, Queen Mary University of London (QMUL), University College of London [London] (UCL), University of Bristol [Bristol], Département de Physique, Université de Genève, Université de Genève (UNIGE), Università degli studi di Torino (UNITO), University G. d'Annunzio, Chieti, Università degli studi 'G. d'Annunzio' Chieti-Pescara [Chieti-Pescara] (Ud'A), Department of Neurology, A.O.U. Maggiore della Carità, and IRCAD, Novara, Department of Health Sciences, UPO University, UPO University, Dipartimento di Matematica 'Ulisse Dini', Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Department of Neurology, Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Department of Neuroscience, University of Siena, Siena, Università cattolica del Sacro Cuore [Roma] (Unicatt), Università degli studi di Bari Aldo Moro (UNIBA), Istituto di Genetica Medica, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, Cagliari, Italy, University of Novara, IRCCS-Istituti Clinici Scientifici Maugeri, University of Milan, Milan, Italy, Department of Biomedical and Specialty Surgical Sciences, Università degli Studi di Ferrara (UniFE), S. Anna Hospital, Department of Neuroscience, Catholic University, Roma, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Institute of Medical Genetics, Catholic University, Rome, Italy, Department of Clinical Genetics, Department of Pathology University of Pittsburgh School of Medicine, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Princeton University, University of Illinois at Urbana-Champaign [Urbana], University of Illinois System, Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Università degli Studi di Milano [Milano] (UNIMI), Laboratory of Neurogenetics, National Institute of Aging, Tel Aviv Sourasky Medical Center [Te Aviv], University of New Haven [Connecticut], Emory University [Atlanta, GA], UCL Institute of neurology, UCL Institute of Neurology, Cardiovascular, Renal and Metabolism, IMED Biotech Unit, AstraZeneca, Genomic Research Laboratory, Service of Infectious Disease, Hôpitaux Universitaires de Genève (HUG), Boston University [Boston] (BU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California [Davis] (UC Davis), University of California-University of California, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Johns Hopkins University, School of Medicine, Department of Medicine, Surgery, and Dentistry, University of Milano, Institute for Clinical Neurobiology, Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Penn State Hershey Medical Center, Penn State Health Milton S. Hershey Medical Center, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Penn State System-Pennsylvania Commonwealth System of Higher Education (PCSHE)-Penn State System, Institute of Public Health and Clinical Nutrition, University of Eastern Finland, Perelman School of Medicine, University of Pennsylvania [Philadelphia], Metacohorts Consortium, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University of Helsinki, Merck Research Laboratories, National Institutes of Health [Bethesda] (NIH), Center for Neuroscience and Regenerative Medicine [Bethesda] (CNRM), and Henry M. Jackson Foundation for the Advancement of Military Medicine (HJM)
- Subjects
0301 basic medicine ,Linkage disequilibrium ,Multifactorial Inheritance ,Multivariate analysis ,LD SCORE REGRESSION ,DYSLIPIDEMIA ,Genome-wide association study ,3124 Neurology and psychiatry ,0302 clinical medicine ,PROTECTIVE FACTOR ,Mendelian Randomization Analysis ,3. Good health ,ALZHEIMERS-DISEASE ,Settore MED/26 - NEUROLOGIA ,risk factor ,BIAS ,Neurology ,CARDIOVASCULAR-DISEASE ,MENDELIAN RANDOMIZATION ,Amyotrophic lateral Sclerosis ,LD score regression ,Mendelian randomization ,amyotrophic lateral sclerosis ,public resource ,Life Sciences & Biomedicine ,Clinical psychology ,Human ,Clinical Neurology ,Biology ,NO ,03 medical and health sciences ,Humans ,Genetic Predisposition to Disease ,Mendelian Randomization Analysi ,MESH: Amyotrophic Lateral Sclerosis ,Genetic Predisposition to Disease / genetics ,Genome-Wide Association Study / methods ,Mendolian Randomization Analysis / methods ,Exercise ,Genetic association ,Science & Technology ,[SCCO.NEUR]Cognitive science/Neuroscience ,Amyotrophic Lateral Sclerosis ,3112 Neurosciences ,Neurosciences ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,CHOLESTEROL HOMEOSTASIS ,Causal inference ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Neurosciences & Neurology ,Neurology (clinical) ,Genome-Wide Association Study ,ALS ,030217 neurology & neurosurgery ,Amyotrophic Lateral Sclerosi - Abstract
OBJECTIVE: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). METHODS: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between >700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls. Multivariate analyses, genetic risk profiling, and Bayesian colocalization analyses were also performed. RESULTS: We have shown, by linkage disequilibrium score regression, that ALS shares polygenic risk genetic factors with a number of traits and conditions, including positive correlations with smoking status and moderate levels of physical activity, and negative correlations with higher cognitive performance, higher educational attainment, and light levels of physical activity. Using Mendelian randomization, we found evidence that hyperlipidemia is a causal risk factor for ALS and localized putative functional signals within loci of interest. INTERPRETATION: Here, we have developed a public resource (https://lng-nia.shinyapps.io/mrshiny) which we hope will become a valuable tool for the ALS community, and that will be expanded and updated as new data become available. Shared polygenic risk exists between ALS and educational attainment, physical activity, smoking, and tenseness/restlessness. We also found evidence that elevated low-desnity lipoprotein cholesterol is a causal risk factor for ALS. Future randomized controlled trials should be considered as a proof of causality. Ann Neurol 2019;85:470-481. ispartof: ANNALS OF NEUROLOGY vol:85 issue:4 pages:470-481 ispartof: location:United States status: published
- Published
- 2019
7. Anorganic bovine bone in the sinus lift procedure: a 40 months follow-up: 216
- Author
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Santoro, G, Beretta, M, Maridati, P C, Benigni, M, and Maiorana, C
- Published
- 2007
8. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
- Author
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Bandres-Ciga, S., Noyce, A. J., Hemani, G., Nicolas, A., Calvo, A., Mora, G., Arosio, A., Barberis, M., Bartolomei, I., Battistini, S., Benigni, M., Borghero, G., Brunetti, M., Cammarosano, S., Cannas, A., Canosa, A., Capasso, Monica, Caponnetto, C., Caredda, C., Carrera, P., Casale, F., Cavallaro, S., Chio, A., Colletti, T., Conforti, F. L., Conte, Amelia, Corrado, L., Costantino, E., D'Alfonso, Sandra, Fasano, Alfonso, Femiano, C., Ferrarese, C., Fini, N., Floris, G., Fuda, G., Giannini, F., Grassano, M., Ilardi, A., La Bella, V., Lattante, Serena, Logroscino, Giandomenico, Logullo, F. O., Loi, D., Lunetta, C., Mancardi, G., Mandich, P., Mandrioli, J., Manera, U., Marangi, Giuseppe, Marinou, K., Marrali, G., Marrosu, M. G., Mazzini, L., Melis, M., Messina, S., Moglia, C., Monsurro, M. R., Mosca, Luigi, Occhineri, P., Origone, P., Pani, C., Penco, S., Petrucci, A., Piccirillo, G., Pirisi, A., Pisano, F., Pugliatti, M., Restagno, G., Ricci, C., Rita Murru, M., Riva, N., Sabatelli, Mario, Salvi, F., Santarelli, M., Sideri, R., De Simone, Idor, Spataro, R., Tanel, R., Tedeschi, G., Tranquilli, S., Tremolizzo, L., Trojsi, F., Volanti, P., Zollino, Marcella, Abramzon, Y., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Cusi, D., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., Faghri, F., Feldman, E., Kay Floeter, M., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kamel, F., Kirby, J., Kowall, N. W., Laaksovirta, H., Landi, Francesco, Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robbrecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Salvi, E., Scholz, S. W., Sendtner, M., Shaw, P. J., Sidle, K. C., Simmons, Z., Singleton, A. B., Stone, D. C., Sulkava, R., Tienari, P. J., Traynor, B. J., Trojanowski, J. Q., Troncoso, J. C., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Stone, D. J., Capasso M., Conte A., D'Alfonso S., Fasano A., Lattante S. (ORCID:0000-0003-2891-0340), Logroscino G. (ORCID:0000-0003-1301-5343), Marangi G. (ORCID:0000-0002-6898-8882), Mosca L. (ORCID:0000-0003-4641-0841), Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), Landi F. (ORCID:0000-0002-3472-1389), Bandres-Ciga, S., Noyce, A. J., Hemani, G., Nicolas, A., Calvo, A., Mora, G., Arosio, A., Barberis, M., Bartolomei, I., Battistini, S., Benigni, M., Borghero, G., Brunetti, M., Cammarosano, S., Cannas, A., Canosa, A., Capasso, Monica, Caponnetto, C., Caredda, C., Carrera, P., Casale, F., Cavallaro, S., Chio, A., Colletti, T., Conforti, F. L., Conte, Amelia, Corrado, L., Costantino, E., D'Alfonso, Sandra, Fasano, Alfonso, Femiano, C., Ferrarese, C., Fini, N., Floris, G., Fuda, G., Giannini, F., Grassano, M., Ilardi, A., La Bella, V., Lattante, Serena, Logroscino, Giandomenico, Logullo, F. O., Loi, D., Lunetta, C., Mancardi, G., Mandich, P., Mandrioli, J., Manera, U., Marangi, Giuseppe, Marinou, K., Marrali, G., Marrosu, M. G., Mazzini, L., Melis, M., Messina, S., Moglia, C., Monsurro, M. R., Mosca, Luigi, Occhineri, P., Origone, P., Pani, C., Penco, S., Petrucci, A., Piccirillo, G., Pirisi, A., Pisano, F., Pugliatti, M., Restagno, G., Ricci, C., Rita Murru, M., Riva, N., Sabatelli, Mario, Salvi, F., Santarelli, M., Sideri, R., De Simone, Idor, Spataro, R., Tanel, R., Tedeschi, G., Tranquilli, S., Tremolizzo, L., Trojsi, F., Volanti, P., Zollino, Marcella, Abramzon, Y., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Cusi, D., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., Faghri, F., Feldman, E., Kay Floeter, M., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kamel, F., Kirby, J., Kowall, N. W., Laaksovirta, H., Landi, Francesco, Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robbrecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Salvi, E., Scholz, S. W., Sendtner, M., Shaw, P. J., Sidle, K. C., Simmons, Z., Singleton, A. B., Stone, D. C., Sulkava, R., Tienari, P. J., Traynor, B. J., Trojanowski, J. Q., Troncoso, J. C., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Stone, D. J., Capasso M., Conte A., D'Alfonso S., Fasano A., Lattante S. (ORCID:0000-0003-2891-0340), Logroscino G. (ORCID:0000-0003-1301-5343), Marangi G. (ORCID:0000-0002-6898-8882), Mosca L. (ORCID:0000-0003-4641-0841), Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), and Landi F. (ORCID:0000-0002-3472-1389)
- Abstract
Objective: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between >700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls. Multivariate analyses, genetic risk profiling, and Bayesian colocalization analyses were also performed. Results: We have shown, by linkage disequilibrium score regression, that ALS shares polygenic risk genetic factors with a number of traits and conditions, including positive correlations with smoking status and moderate levels of physical activity, and negative correlations with higher cognitive performance, higher educational attainment, and light levels of physical activity. Using Mendelian randomization, we found evidence that hyperlipidemia is a causal risk factor for ALS and localized putative functional signals within loci of interest. Interpretation: Here, we have developed a public resource (https://lng-nia.shinyapps.io/mrshiny) which we hope will become a valuable tool for the ALS community, and that will be expanded and updated as new data become available. Shared polygenic risk exists between ALS and educational attainment, physical activity, smoking, and tenseness/restlessness. We also found evidence that elevated low-desnity lipoprotein cholesterol is a causal risk factor for ALS. Future randomized controlled trials should be considered as a proof of causality. Ann Neurol 2019;85:470–481.
- Published
- 2019
9. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
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Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
- Abstract
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
- Published
- 2018
10. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
-
Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, Giuseppe, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, Giandomenico, Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, Monica, Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, Luigi, Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, Alfonso, Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurro, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, Sandra, Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S. A., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S. B., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R. H., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y. -F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J. M., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Quanquan, Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., Macgowan, D. J. L., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S. K., Lenail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J. E., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Zuchner, S., Schule, R., Mccauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., Mcmillan, C., Elman, L., Pioro, E. P., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Soraru, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, Giovanni, Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, Vanna Maria, Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Munoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, Francesco, Bowser, R., Kirby, J., Pamphlett, R., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., Mclaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Perez, J., Garcia-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P. M., Chio, A., Cooper-Knock, J., Dekker, A., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Kiernan, M., Landers, J. E., Mill, J., Neto, M. M., Pardina, J. M., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L. H., van Vugt, J., Veldink, J. H., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Feldman, E. L., Ludolph, A. C., Weishaupt, J. H., Trojanowski, J. Q., Stone, D. J., Tienari, P., Shaw, C. E., Traynor, B. J., Marangi G. (ORCID:0000-0002-6898-8882), Logroscino G. (ORCID:0000-0003-1301-5343), Capasso M., Mosca L. (ORCID:0000-0003-4641-0841), Fasano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), Conte A., Luigetti M. (ORCID:0000-0001-7539-505X), Lattante S. (ORCID:0000-0003-2891-0340), D'Alfonso S., Siciliano G., Valori M., Landi F. (ORCID:0000-0002-3472-1389), Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, Giuseppe, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, Giandomenico, Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, Monica, Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, Luigi, Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, Alfonso, Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurro, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, Sandra, Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S. A., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S. B., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R. H., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y. -F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. 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P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Zuchner, S., Schule, R., Mccauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., Mcmillan, C., Elman, L., Pioro, E. P., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Soraru, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, Giovanni, Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, Vanna Maria, Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Munoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, Francesco, Bowser, R., Kirby, J., Pamphlett, R., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., Mclaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Perez, J., Garcia-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P. M., Chio, A., Cooper-Knock, J., Dekker, A., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Kiernan, M., Landers, J. E., Mill, J., Neto, M. M., Pardina, J. M., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L. H., van Vugt, J., Veldink, J. H., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Feldman, E. L., Ludolph, A. C., Weishaupt, J. H., Trojanowski, J. Q., Stone, D. J., Tienari, P., Shaw, C. E., Traynor, B. J., Marangi G. (ORCID:0000-0002-6898-8882), Logroscino G. (ORCID:0000-0003-1301-5343), Capasso M., Mosca L. (ORCID:0000-0003-4641-0841), Fasano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), Conte A., Luigetti M. (ORCID:0000-0001-7539-505X), Lattante S. (ORCID:0000-0003-2891-0340), D'Alfonso S., Siciliano G., Valori M., and Landi F. (ORCID:0000-0002-3472-1389)
- Abstract
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
- Published
- 2018
11. HFE p.H63D polymorphism does not influence ALS phenotype and survival
- Author
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Chio, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Monsurro, M, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Nilo, R, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Zollino, M, Conforti, F, Penco, S, Brunetti, M, Barberis, M, Restagno, G, Logroscino, G, Bartolomei, I, Capasso, M, Mancardi, G, Origone, P, Marinou, K, Sideri, R, Mosca, L, Pinter, G, Corbo, M, Fini, N, Georgoulopoulou, E, Tremolizzo, L, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Battistini, S, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Ortu, E, Cau, T, Loi, D, Chio A., Mora G., Sabatelli M., Caponnetto C., Lunetta C., Traynor B. J., Johnson J. O., Nalls M. A., Calvo A., Moglia C., Borghero G., Monsurro M. R., La Bella V., Volanti P., Simone I., Salvi F., Logullo F. O., Nilo R., Giannini F., Mandrioli J., Tanel R., Murru M. R., Mandich P., Zollino M., Conforti F. L., Penco S., Brunetti M., Barberis M., Restagno G., Logroscino G., Bartolomei I., Capasso M., Mancardi G., Origone P., Marinou K., Sideri R., Mosca L., Pinter G. L., Corbo M., Fini N., Georgoulopoulou E., Tremolizzo L., Tedeschi G., Trojsi F., Piccirillo G., Cristillo V., Spataro R., Colletti T., Conte A., Luigetti M., Lattante S., Marangi G., Santarelli M., Petrucci A., Battistini S., Ricci C., Benigni M., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Ilardi A., Bertuzzo D., Pisano F., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M. G., Floris G., Cannas A., Ticca A., Pugliatti M., Pirisi A., Parish L. D., Occhineri P., Ortu E., Cau T. B., Loi D., Chio, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Monsurro, M, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Nilo, R, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Zollino, M, Conforti, F, Penco, S, Brunetti, M, Barberis, M, Restagno, G, Logroscino, G, Bartolomei, I, Capasso, M, Mancardi, G, Origone, P, Marinou, K, Sideri, R, Mosca, L, Pinter, G, Corbo, M, Fini, N, Georgoulopoulou, E, Tremolizzo, L, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Battistini, S, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Ortu, E, Cau, T, Loi, D, Chio A., Mora G., Sabatelli M., Caponnetto C., Lunetta C., Traynor B. J., Johnson J. O., Nalls M. A., Calvo A., Moglia C., Borghero G., Monsurro M. R., La Bella V., Volanti P., Simone I., Salvi F., Logullo F. O., Nilo R., Giannini F., Mandrioli J., Tanel R., Murru M. R., Mandich P., Zollino M., Conforti F. L., Penco S., Brunetti M., Barberis M., Restagno G., Logroscino G., Bartolomei I., Capasso M., Mancardi G., Origone P., Marinou K., Sideri R., Mosca L., Pinter G. L., Corbo M., Fini N., Georgoulopoulou E., Tremolizzo L., Tedeschi G., Trojsi F., Piccirillo G., Cristillo V., Spataro R., Colletti T., Conte A., Luigetti M., Lattante S., Marangi G., Santarelli M., Petrucci A., Battistini S., Ricci C., Benigni M., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Ilardi A., Bertuzzo D., Pisano F., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M. G., Floris G., Cannas A., Ticca A., Pugliatti M., Pirisi A., Parish L. D., Occhineri P., Ortu E., Cau T. B., and Loi D.
- Abstract
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significantly differ by age at onset, site of onset of symptoms, and survival; however, in SOD1 patients with CG or GG polymorphism had a significantly longer survival than those with a CC polymorphism. Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients.
- Published
- 2015
12. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
- Author
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Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B. J, Johnson, J. O, Nalls, M. A, Calvo, A, Moglia, C, Borghero, G, Trojsi, F, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F. O, Riva, N, Carrera, P, Giannini, F, Mandrioli, J, Tanel, R, Capasso, M, Tremolizzo, L, Battistini, S, Murru, M. R, Origone, P, Zollino, M, Penco, S, Mazzini, L, D'Alfonso, S, Restagno, G, Brunetti, M, Barberis, M, Conforti, F. L, Logroscino, G, Bartolomei, I, Mancardi, G, Mandich, P, Marinou, K, Sideri, R, Mosca, L, Lauria Pinter, G, Corbo, M, Fini, N, Fasano, A, Arosio, A, Ferrarese, C, Tedeschi, G, Monsurrò, M. R, Piccirillo, G, Femiano, C, Bersano, A, Corrado, L, Bagarotti, A, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Manera, U, Bertuzzo, D, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M. G, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, L. D, Occhineri, P, Ortu, E, Cau, T. B, Loi, D, Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Lunetta, C., Traynor, B., Johnson, J., Nalls, M., Calvo, A., Moglia, C., Borghero, G., Trojsi, F., LA BELLA, V., Volanti, P., Simone, I., Salvi, F., Logullo, F., Riva, N., Carrera, P., Giannini, F., Mandrioli, J., Tanel, R., Capasso, M., Tremolizzo, L., Battistini, S., Murru, M., Origone, P., Zollino, M., Penco, S., Mazzini, L., D'Alfonso, S., Restagno, G., Brunetti, M., Barberis, M., Conforti, F., Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J, Johnson, Janel O, Nalls, Mike A, Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Trojsi, Francesca, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O, Riva, Nilo, Carrera, Paola, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Capasso, Margherita, Tremolizzo, Lucio, Battistini, Stefania, Murru, Maria Rita, Origone, Paola, Zollino, Marcella, Penco, Silvana, Logroscino, G, Bartolomei, I, Mancardi, G, Mandich, P, Marinou, K, Sideri, R, Mosca, L, Pinter, Gl, Corbo, M, Fini, N, Fasano, A, Arosio, A, Ferrarese, C, Tedeschi, Gioacchino, Monsurro', Maria Rosaria, Piccirillo, G, Femiano, C, Bersano, A, Corrado, L, Bagarotti, A, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Manera, U, Bertuzzo, D, Tanel, R, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, Mg, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, Ld, Occhineri, P, Ortu, E, Cau, Tb, Loi, D, Mazzini, Letizia, D'Alfonso, Sandra, Restagno, Gabriella, Brunetti, Maura, Barberis, Marco, Conforti, Francesca L., Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Trojsi, F, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Carrera, P, Giannini, F, Mandrioli, J, Capasso, M, Tremolizzo, L, Battistini, S, Murru, M, Origone, P, Zollino, M, Penco, S, Mazzini, L, D'Alfonso, S, Restagno, G, Brunetti, M, Barberis, M, Conforti, F, Lauria Pinter, G, Tedeschi, G, Monsurrò, M, Marrosu, M, Parish, L, and Cau, T
- Subjects
Male ,0301 basic medicine ,Aging ,C9ORF72 ,Genetic Association Studie ,030105 genetics & heredity ,Biology ,Settore MED/03 - GENETICA MEDICA ,03 medical and health sciences ,0302 clinical medicine ,C9orf72 ,medicine ,Allele ,Amyotrophic lateral sclerosis ,Amyotrophic lateral sclerosi ,Aged ,Ataxin-2 ,Regulator gene ,ATXN2 ,Phenotype ,Neuroscience (all) ,Medicine (all) ,Developmental Biology ,Geriatrics and Gerontology ,Neurology (clinical) ,Genetics ,DNA Repeat Expansion ,Protein ,General Neuroscience ,Middle Aged ,medicine.disease ,3. Good health ,C9orf72 Protein ,Italy ,Population study ,Female ,Settore MED/26 - Neurologia ,Trinucleotide repeat expansion ,030217 neurology & neurosurgery ,Human - Abstract
There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS cases who carried the C9ORF72 expansion; (2) 1340 Italian and 299 Sardinian ALS cases not carrying the C9ORF72 expansion. A total of healthy 1043 controls were also assessed. Most Italian and Sardinian cases and controls were homozygous for 22/22 or 23/23 repeats or heterozygous for 22/23 repeats of the ATXN2 gene. ATXN2 intermediate length repeats alleles (≥28) were detected in 3 (0.6%) Italian ALS cases carrying the C9ORF72 expansion, in none of the Sardinian ALS cases carrying the expansion, in 60 (4.3%) Italian cases not carrying the expansion, and in 6 (2.0%) Sardinian ALS cases without C9ORF72 expansion. Intermediate length repeat alleles were found in 12 (1.5%) Italian controls and 1 (0.84%) Sardinian controls. Therefore, ALS patients with C9ORF72 expansion showed a lower frequency of ATXN2 polyQ intermediate length repeats than both controls (Italian cases, p = 0.137; Sardinian cases, p = 0.0001) and ALS patients without C9ORF72 expansion (Italian cases, p = 0.005; Sardinian cases, p = 0.178). In our large study on Italian and Sardinian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, ATXN2 polyQ intermediate length does not represent a modifier of ALS risk, differently from non- C9ORF72 mutated patients.
- Published
- 2015
13. Poly-d-l-lactic acid (PDLLA) devices for bone regeneration: a histomorphometric study in pigs
- Author
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Poli PP, Benigni M, Poli GP, Santoro F., ANNUNZIATA, Marco, Poli, Pp, Annunziata, Marco, Benigni, M, Poli, Gp, and Santoro, F.
- Published
- 2014
14. 'To school of prevention: the vaccinations', project in the ASL Roma 4
- Author
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Fusillo, C, primary, Benigni, M, additional, Cramarossa, A, additional, Di Marzio, L, additional, Galliani, E, additional, Infante, A, additional, Marchetti, C, additional, Rossi, S, additional, Sgricia, S, additional, Sinopoli, MT, additional, and Quintavalle, G, additional
- Published
- 2017
- Full Text
- View/download PDF
15. An integrated and multidisciplinary approach in taking charge of migrant in the ASL RM4
- Author
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Sinopoli, MT, primary, Serra, MC, additional, Fusillo, C, additional, Lopalco, M, additional, Vita, S, additional, Di Marzio, L, additional, Benigni, M, additional, Marchetti, C, additional, Rossi, S, additional, Trani, F, additional, Galliano, E, additional, and Sgricia, S, additional
- Published
- 2016
- Full Text
- View/download PDF
16. Control of root aphid (Pemphigus bursarius L.) in witloof chicory culture (Cichorium intybus L. var. foliosum)
- Author
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Benigni, M., primary, Cassan, L., additional, Leignez, S., additional, Durlin, L., additional, and Oste, S., additional
- Published
- 2016
- Full Text
- View/download PDF
17. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
- Author
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Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Trojsi, F, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Carrera, P, Giannini, F, Mandrioli, J, Tanel, R, Capasso, M, Tremolizzo, L, Battistini, S, Murru, M, Origone, P, Zollino, M, Penco, S, Mazzini, L, D'Alfonso, S, Restagno, G, Brunetti, M, Barberis, M, Conforti, F, Logroscino, G, Bartolomei, I, Mancardi, G, Mandich, P, Marinou, K, Sideri, R, Mosca, L, Lauria Pinter, G, Corbo, M, Fini, N, Fasano, A, Arosio, A, Ferrarese, C, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Bersano, A, Corrado, L, Bagarotti, A, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Manera, U, Bertuzzo, D, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Ortu, E, Cau, T, Loi, D, TREMOLIZZO, LUCIO, AROSIO, ALESSANDRO, FERRARESE, CARLO, Loi, D., Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Trojsi, F, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Carrera, P, Giannini, F, Mandrioli, J, Tanel, R, Capasso, M, Tremolizzo, L, Battistini, S, Murru, M, Origone, P, Zollino, M, Penco, S, Mazzini, L, D'Alfonso, S, Restagno, G, Brunetti, M, Barberis, M, Conforti, F, Logroscino, G, Bartolomei, I, Mancardi, G, Mandich, P, Marinou, K, Sideri, R, Mosca, L, Lauria Pinter, G, Corbo, M, Fini, N, Fasano, A, Arosio, A, Ferrarese, C, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Bersano, A, Corrado, L, Bagarotti, A, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Manera, U, Bertuzzo, D, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Ortu, E, Cau, T, Loi, D, TREMOLIZZO, LUCIO, AROSIO, ALESSANDRO, FERRARESE, CARLO, and Loi, D.
- Abstract
There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS cases who carried the C9ORF72 expansion; (2) 1340 Italian and 299 Sardinian ALS cases not carrying the C9ORF72 expansion. A total of healthy 1043 controls were also assessed. Most Italian and Sardinian cases and controls were homozygous for 22/22 or 23/23 repeats or heterozygous for 22/23 repeats of the ATXN2 gene. ATXN2 intermediate length repeats alleles (≥28) were detected in 3 (0.6%) Italian ALS cases carrying the C9ORF72 expansion, in none of the Sardinian ALS cases carrying the expansion, in 60 (4.3%) Italian cases not carrying the expansion, and in 6 (2.0%) Sardinian ALS cases without C9ORF72 expansion. Intermediate length repeat alleles were found in 12 (1.5%) Italian controls and 1 (0.84%) Sardinian controls. Therefore, ALS patients with C9ORF72 expansion showed a lower frequency of ATXN2 polyQ intermediate length repeats than both controls (Italian cases, p = 0.137; Sardinian cases, p = 0.0001) and ALS patients without C9ORF72 expansion (Italian cases, p = 0.005; Sardinian cases, p = 0.178). In our large study on Italian and Sardinian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, ATXN2 polyQ intermediate length does not represent a modifier of ALS risk, differently from non-C9ORF72 mutated patients.
- Published
- 2016
18. La pianificazione urbanistica per la prevenzione sismica e la ripresa post terremoto: Condizione Limite per l'Emergenza e struttura urbana Minima. Analisi comparativa e valutazione della Cle in quattro comuni dell'Umbria
- Author
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Olivieri, Massimo, Benigni, M. S., DE GIROLAMO, Flavia, De Rosa, A., Di Salvo, G., Fazzio, F., Giuffrè, M., Pellegrino, P., Parotto, R., and Pizzo, Barbara
- Subjects
pianificazione urbanistica ,prevenzione sismica ,post terremoto - Published
- 2014
19. TBK1 is associated with ALS and ALS-FTD in Sardinian patients
- Author
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Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, M, Murru, M, Floris, G, Cannas, A, Occhineri, P, Cau, T, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Gibbs, J, Renton, A, Errichiello, E, Zoledziewska, M, Mulas, A, Qian, Y, Din, J, Pliner, H, Traynor, B, Chiò, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Capasso, M, Caponnetto, C, Mandich, P, Mancardi, G, Origone, P, Conforti, F, Vita, G, Messina, S, Russo, M, Mora, G, Marinou, K, Sideri, R, Lunetta, C, Penco, S, Mosca, L, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Tremolizzo, L, Ferrarese, C, Fini, N, Fasano, A, Monsurrò, M, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Mazzini, L, D'Alfonso, S, Bersano, A, Corrado, L, Bagarotti, A, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Tanel, R, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Pirisi, A, Parish, L, Ortu, E, Ortu, E., TREMOLIZZO, LUCIO, FERRARESE, CARLO, Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, M, Murru, M, Floris, G, Cannas, A, Occhineri, P, Cau, T, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Gibbs, J, Renton, A, Errichiello, E, Zoledziewska, M, Mulas, A, Qian, Y, Din, J, Pliner, H, Traynor, B, Chiò, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Capasso, M, Caponnetto, C, Mandich, P, Mancardi, G, Origone, P, Conforti, F, Vita, G, Messina, S, Russo, M, Mora, G, Marinou, K, Sideri, R, Lunetta, C, Penco, S, Mosca, L, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Tremolizzo, L, Ferrarese, C, Fini, N, Fasano, A, Monsurrò, M, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Mazzini, L, D'Alfonso, S, Bersano, A, Corrado, L, Bagarotti, A, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Tanel, R, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Pirisi, A, Parish, L, Ortu, E, Ortu, E., TREMOLIZZO, LUCIO, and FERRARESE, CARLO
- Abstract
Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.
- Published
- 2015
20. Acceptance and safety of the intradermal influenza vaccine among the elderly in Italy: an on-field national study
- Author
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Durando, Paolo, Alicino, Cristiano, Alberti, Marisa, Sticchi, Laura, Turello, Valter, Marensi, Lorenzo, Caiazzo, Anna Luisa, Panico, Maria Grazia, Accurso, G., Adinolfi, M., Agliata, R., Albanese, E., Angeli, C., Arenare, L., Avino, A., Barberis, I., Benigni, M., Borzone, F., Cacciani, R., Caprile, S., Cardamone, G., Coluccio, R., Compagnino, F., Coppola, T., D’Anna, A., Della Monica, A., Di Cianni, E., Di Marzio, L., Farro, A., Fiore, F., Fusillo, C., Gallo, D., Granata, M. R., Iudici, R., Mantero, P., Marchetti, C., Martini, M., Nasto, R., Opisso, A., Petrucci, A., Rocco, M., Ronga, C., Rosselli, R., Rossi, S., Sannino, N., Sibilio, R., Simoni, M. C., Sinopoli, T., Varone, A., Visconti, M., Viscosi, C., Vyshka, S., and Zacconi, M.
- Subjects
Male ,medicine.medical_specialty ,Injections, Intradermal ,Influenza vaccine ,Pharmacology toxicology ,Practice Patterns ,Injections, Intramuscular ,Injections ,Elderly ,Intradermal ,Surveys and Questionnaires ,Influenza, Human ,Live attenuated influenza vaccine ,Medicine ,Humans ,Pharmacology (medical) ,Practice Patterns, Physicians' ,Survey ,Aged ,Intramuscular ,Physicians' ,Health professionals ,business.industry ,General Medicine ,Middle Aged ,Patient Acceptance of Health Care ,Influenza ,Revaccination ,Acceptance ,Multicenter study ,Immunization ,Italy ,Intradermal vaccine ,Influenza Vaccines ,Family medicine ,Immunology ,National study ,Safety ,Female ,Observational study ,business ,Human - Abstract
An observational multicenter study was carried out in Italy, to evaluate the acceptability and safety of the new intradermal (ID) influenza vaccine (Intanza Sanofi Pasteur SA, Lyon, France) among subjects aged≥60 years, compared with that of other intramuscular (IM) influenza vaccines. Compliance with the use of the ID vaccine by healthcare professionals was also assessed.A previously validated and self-administered questionnaire, Vaccinees' Perception of Injection (VAPI®), consisting of 21 questions, mainly focused on four dimensions (bother, arm movements, sleep, and acceptability), was administered to1,600 individuals with spontaneous access to outpatient clinics, located in Northern, Central, and Southern Italy, to evaluate the acceptance of the vaccines. Occurrence of solicited and unsolicited side effects and of serious adverse events was assessed in a subset of subjects (n=500), using a clinical diary filled in by vaccinees following immunization. Compliance with the new ID vaccine by healthcare professionals was investigated using an ad-hoc questionnaire.A very favorable opinion concerning the acceptability of both the vaccines under survey, with the most positive answers ranging between 75.5% and 94.9%, was registered within the study population. Also the compliance by healthcare professionals (n=130) with the novel ID vaccine was favorable. No serious adverse event occurred during the 6-month follow-up period. The frequency of solicited systemic reactions was comparable between the two study groups, while solicited local reactions were significantly higher in the ID-vaccine group than in the IM-vaccine group, even if at values lower than those reported in phase 3 clinical trials (ranges=18.5-32.6% vs. 29.5-70.9%). These local events were mild and transient, thus without any clinical relevance.The novel ID influenza vaccine can be widely recommended in clinical practice, representing a useful tool to improve immunization coverage rates, and thus the control of influenza.
- Published
- 2012
21. Evaluation (et Gestion) des risques sanitaires bactériens liés aux itinéraires culturaux de la pomme de terre et d’autres cultures spécialisées
- Author
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Le Hingrat, Y., Hélias, Valerie, Le Roux, Anne-Claire, Cellier , G., Prior , P., Rivoal, C., Poliakoff, F., Soubelet , H., Moreau , M., Deveaux , V., Latour , X., Gaucher, D., Benigni , M., Martinon, V., Fédération Nationale des Producteurs de Plants de Pomme de Terre (FN3PT), Institut de Génétique, Environnement et Protection des Plantes (IGEPP), Institut National de la Recherche Agronomique (INRA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Peuplements végétaux et bioagresseurs en milieu tropical (UMR PVBMT), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Université de La Réunion (UR), Unité bactériologie, Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), Laboratoire de Microbiologie Signaux et Microenvironnement (LMSM), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), COMITE NORD Plants de Pomme de Terre / SIPRE, Station Expérimentale, ARVALIS - Institut du végétal [Paris], Association des Producteurs d'Endives de France (APEF), Force A, Université Paris-Sud - Paris 11 (UP11), Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-AGROCAMPUS OUEST, and Comité Nord Plants de Pommes de Terre
- Subjects
caractérisation (ou diversité) ,pomme de terre ,itinéraires culturaux ,analyse de risque phytosanitaire ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,endive ,outils de détection ,irrigation ,bactérioses - Abstract
Textes issus des travaux du programme Casdar "Innovation et Partenariat" de 2007 et présentés lors d'un colloque le 4 décembre 2012, sous l'égide du GIS Relance Agronomique; National audience; This project aimed at developing tools for the risk assessment and control of two bacterial diseases (bacterial wilt and blackleg due to Ralstonia solanacearum and Pectobacterium/Dickeya spp.) which constitute important threats for numerous crops, such as potato and other specialized crops. Methodological studies made it possible to compare various serological and molecular detection tools and to select methods depending on the matrix (plants, water or soil). The project also studied diversity of emergent bacterial strains, ran epidemiological survey of the bacteria survival in the environment, and investigated innovative methods for control or decontamination.; Ce programme s’est articulé autour d’actions visant à évaluer et donner des éléments de gestion des risques sanitaires concernant deux maladies bactériennes (pourriture brune et jambe noire dues respectivement à Ralstonia solanacearum et Pectobacterium/Dickeya spp.) qui constituent une menace importante pour de nombreuses cultures, comme la pomme de terre et d’autres cultures spécialisées. D’importants travaux méthodologiques ont permis de comparer différents outils phénotypiques (sérologiques, biologiques) et moléculaires de détection de ces bactéries et de sélectionner des méthodes adaptées selon la matrice testée (plantes, eau ou sol). Le projet a permis aussi de conduire des études sur la diversité des souches bactériennes émergentes et leur épidémiologie pour mieux comprendre les conditions de survie de ces pathogènes dans l’environnement, ainsi que d’explorer des méthodes innovantes de lutte ciblant la virulence ou de décontamination.
- Published
- 2012
22. Evaluation (et Gestion) des risques sanitaires bactériens liés aux itinéraires culturaux de la pomme de terre et d’autres cultures spécialisées
- Author
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Hélias, Valerie, Le Roux-Nio, Anne-Claire, Cellier , G., Prior , P., Rivoal, C., Poliakoff, F., Soubelet , H., Moreau , M., Deveaux , V., Latour , X., Gaucher, D., Benigni , M., Martinon, V., and Le Hingrat, Y.
- Subjects
bactérie ,risque sanitaire ,Santé publique et épidémiologie ,programme ,bactérioses ,caractérisation (ou diversité) ,analyse de risque phytosanitaire ,itinéraires culturaux ,irrigation ,outils de détection ,pomme de terre ,endive - Abstract
Ce programme s’est articulé autour d’actions visant à évaluer et donner des éléments de gestion des risques sanitaires concernant deux maladies bactériennes (pourriture brune et jambe noire dues respectivement à Ralstonia solanacearum et Pectobacterium/Dickeya spp.) qui constituent une menace importante pour de nombreuses cultures, comme la pomme de terre et d’autres cultures spécialisées. D’importants travaux méthodologiques ont permis de comparer différents outils phénotypiques (sérologiques, biologiques) et moléculaires de détection de ces bactéries et de sélectionner des méthodes adaptées selon la matrice testée (plantes, eau ou sol). Le projet a permis aussi de conduire des études sur la diversité des souches bactériennes émergentes et leur épidémiologie pour mieux comprendre les conditions de survie de ces pathogènes dans l’environnement, ainsi que d’explorer des méthodes innovantes de lutte ciblant la virulence ou de décontamination., This project aimed at developing tools for the risk assessment and control of two bacterial diseases (bacterial wilt and blackleg due to Ralstonia solanacearum and Pectobacterium/Dickeya spp.) which constitute important threats for numerous crops, such as potato and other specialized crops. Methodological studies made it possible to compare various serological and molecular detection tools and to select methods depending on the matrix (plants, water or soil). The project also studied diversity of emergent bacterial strains, ran epidemiological survey of the bacteria survival in the environment, and investigated innovative methods for control or decontamination.
- Published
- 2012
23. Report on the migrants' vaccinations in the ASL RMF
- Author
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Sinopoli, MT, primary, Benigni, M, additional, Trani, F, additional, Serra, MC, additional, Fusillo, C, additional, Di Marzio, L, additional, Marchetti, C, additional, Rossi, S, additional, Galliani, E, additional, Rabbiosi, S, additional, and Sgricia, S, additional
- Published
- 2015
- Full Text
- View/download PDF
24. QuaVaTAR: VALUTAZIONE DELLA QUALITA' DEI SERVIZI VACCINALI CON ACCESSO LIBERO NELLA ASL RMF
- Author
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Sgricia, S, Benigni, M, DI MARZIO, L, Marchetti, C, Rabbiosi, S, Rossi, S, Sinopoli, M, Maurici, M, Null, C, Paulon, L, Ferrante, M, and Franco, E
- Subjects
Settore MED/42 - Igiene Generale e Applicata - Published
- 2010
25. Analysis of regulatory regions of macrophage migration inhibitory factor (MIF) gene in Italian ALS patients
- Author
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Claudia Ricci, Benigni, M., Greco, G., Giannini, F., and Battistini, S.
- Published
- 2009
26. Displasia fibrosa monostotica dei mascellari: un caso clinico
- Author
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Beretta, M., Cicciu', Marco, Benigni, M., Santoro, G., Fimmanò, M., and Maiorana, C.
- Published
- 2009
27. Hard and soft tissues management in functional and aesthetic restoration of an atrophic jaw: A case report
- Author
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Beretta, M., Benigni, M., Farronato, Davide, Santoro, G., and Cicciù, M.
- Published
- 2007
28. Post- Traumatic intraoral bone grafting in aesthetic areas:a case report
- Author
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Maiorana, C, Beretta, M, Benigni, M, Dolci, M, Cicciu', Marco, and Santoro, F.
- Published
- 2007
29. Investigation of the Spray Behavior of Gelled JetA-1/Aerosil-Mixtures with a Like-on-Like Impinging Jet Atomizer
- Author
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Bartels, N., Kampen von, J., Ciezki, H., and Benigni, M.
- Published
- 2003
30. Variazioni climatiche e processionaria del pino: adattamenti di un defoliatore a condizioni ambientali mutevoli
- Author
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Benigni, M. and Battisti, Andrea
- Published
- 1999
31. PA28 ADOLESCENTS, ABDOMINAL PAIN AND THE INTERNET
- Author
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Biagetti, C., primary, Benigni, M., additional, and Catassi, C., additional
- Published
- 2010
- Full Text
- View/download PDF
32. Post harvest control of Phytophthora cryptogea of witloof chicory with different fungicides and possible occurrence of resistant strains
- Author
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Benigni, M., primary and Bompeix, G., additional
- Published
- 2006
- Full Text
- View/download PDF
33. Control of Phytophthora cryptogea (Pethyb.and Laff.) of witloof chicory (Cichorium intybus L.) with azoxystrobin applied before the forcing period
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Benigni, M, primary and Bompeix, G, additional
- Published
- 2004
- Full Text
- View/download PDF
34. Design of rad-hard SRAM cells: A comparative study.
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Benigni, M., Liberali, V., Stabile, A., and Calligaro, C.
- Published
- 2010
- Full Text
- View/download PDF
35. A novel SOD1 gene mutation in a familial ALS patient
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Giannini, F., Benigni, M., Claudia Ricci, Greco, G., Torzini, A., and Battistini, S.
36. SOD1 mutations in amyotrophic lateral sclerosis
- Author
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Stefania Battistini, Benigni, M., Ricci, C., and Rossi, A.
37. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
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Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke J F A, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Null, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, Campbell, Roy H, Landi, Francesco, Bowser, Robert, Pulst, Stefan M, Ravits, John M, Macgowan, Daniel J L, Kirby, Janine, Pioro, Erik P, Pamphlett, Roger, Broach, Jame, Gerhard, Glenn, Dunckley, Travis L, Brady, Christopher B, Kowall, Neil W, Troncoso, Juan C, Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D, Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H, Strom, Tim M, Meitinger, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús S, Drory, Vivian E, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Hardiman, Orla, Williams, Kelly L, Fifita, Jennifer A, Nicholson, Garth A, Blair, Ian P, Rouleau, Guy A, Esteban-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, Goutman, Stephen A, Feldman, Eva L, Gibson, Summer B, Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Camu, William, Trojanowski, John Q, Van Deerlin, Vivianna M, Brown, Robert H, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
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Male ,Als gene ,Genome-wide association study ,FAMILIAL ALS ,ALS ,axonal transport ,cargo ,GWAS ,KIF5A ,WES ,WGS ,0302 clinical medicine ,80 and over ,Psychology ,Aetiology ,Aged, 80 and over ,0303 health sciences ,French ALS Consortium ,Kinesin ,KINESIN HEAVY-CHAIN ,Cognitive Sciences ,Human ,Hereditary spastic paraplegia ,Neuroscience(all) ,Single-nucleotide polymorphism ,TARGETED DISRUPTION ,Article ,03 medical and health sciences ,Genetics ,Humans ,Amino Acid Sequence ,Loss function ,Aged ,HEXANUCLEOTIDE REPEAT ,Neuroscience (all) ,MUTATIONS ,Amyotrophic Lateral Sclerosis ,3112 Neurosciences ,1702 Cognitive Science ,medicine.disease ,ITALSGEN Consortium ,Answer ALS Foundation ,030104 developmental biology ,ALS Sequencing Consortium ,Human medicine ,1109 Neurosciences ,030217 neurology & neurosurgery ,0301 basic medicine ,[SDV]Life Sciences [q-bio] ,Kinesins ,Neurodegenerative ,Genetic analysis ,Genome ,AMYOTROPHIC-LATERAL-SCLEROSIS ,3124 Neurology and psychiatry ,Cohort Studies ,Pathogenesis ,Loss of Function Mutation ,Missense mutation ,2.1 Biological and endogenous factors ,Amyotrophic lateral sclerosis ,NYGC ALS Consortium ,General Neuroscience ,ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS ,Middle Aged ,Phenotype ,Settore MED/26 - NEUROLOGIA ,Neurological ,Project MinE ALS Sequencing Consortium ,Female ,Adult ,Biology ,GENOTYPE IMPUTATION ,Genome-Wide Association Study ,Young Adult ,NO ,Rare Diseases ,medicine ,SLAGEN Consortium ,Gene ,030304 developmental biology ,Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium ,Neurology & Neurosurgery ,Human Genome ,Neurosciences ,AXONAL-TRANSPORT ,Brain Disorders ,Family member ,DNA-DAMAGE ,MOTOR-NEURONS ,3111 Biomedicine ,Cohort Studie ,Genomic Translation for ALS Care (GTAC) Consortium ,Amyotrophic Lateral Sclerosi - Abstract
© 2018 Elsevier Inc., To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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- 2018
38. Down Syndrome patients with COVID-19 pneumonia: A high-risk category for unfavourable outcome
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Serena Vita, Virginia Di Bari, Angela Corpolongo, Delia Goletti, Joaquin Espinosa, Sebastiano Petracca, Fabrizio Palmieri, Emanuele Nicastri, null Abbonizio, Chiara Agrati, Fabrizio Albarello, Gioia Amadei, Alessandra Amendola, Mario Antonini, Raffaella Barbaro, Barbara Bartolini, Martina Benigni, Nazario Bevilacqua, Licia Bordi, Veronica Bordoni, Marta Branca, Paolo Campioni, Maria Rosaria Capobianchi, Cinzia Caporale, Ilaria Caravella, Fabrizio Carletti, Concetta Castilletti, Roberta Chiappini, Carmine Ciaralli, Francesca Colavita, Massimo Cristofaro, Salvatore Curiale, Alessandra D’Abramo, Cristina Dantimi, Alessia De Angelis, Giada De Angelis, Rachele Di Lorenzo, Federica Di Stefano, Federica Ferraro, Lorena Fiorentini, Andrea Frustaci, Paola Gallì, Gabriele Garotto, Maria Letizia Giancola, Filippo Giansante, Emanuela Giombini, Maria Cristina Greci, Giuseppe Ippolito, Eleonora Lalle, Simone Lanini, Daniele Lapa, Luciana Lepore, Andrea Lucia, Franco Lufrani, Manuela Macchione, Alessandra Marani, Luisa Marchioni, Andrea Mariano, Maria Cristina Marini, Micaela Maritti, Giulia Matusali, Silvia Meschi, Francesco Messina Chiara Montaldo, Silvia Murachelli, Roberto Noto, Claudia Palazzolo, Emanuele Pallini, Virgilio Passeri, Federico Pelliccioni, Antonella Petrecchia, Ada Petrone, Nicola Petrosillo, Elisa Pianura, Maria Pisciotta, Silvia Pittalis, Costanza Proietti, Vincenzo Puro, Gabriele Rinonapoli, Martina Rueca, Alessandra Sacchi, Francesco Sanasi, Carmen Santagata, Silvana Scarcia, Vincenzo Schininà, Paola Scognamiglio, Laura Scorzolini, Giulia Stazi, Francesco Vaia, Francesco Vairo, Maria Beatrice Valli, Vita, S., Di Bari, V., Corpolongo, A., Goletti, D., Espinosa, J., Petracca, S., Palmieri, F., Nicastri, E., Abbonizio, Agrati, C., Albarello, F., Amadei, G., Amendola, A., Antonini, M., Barbaro, R., Bartolini, B., Benigni, M., Bevilacqua, N., Bordi, L., Bordoni, V., Branca, M., Campioni, P., Capobianchi, M. R., Caporale, C., Caravella, I., Carletti, F., Castilletti, C., Chiappini, R., Ciaralli, C., Colavita, F., Cristofaro, M., Curiale, S., D'Abramo, A., Dantimi, C., Angelis, A. D., Angelis, G. D., Lorenzo, R. D., Stefano, F. D., Ferraro, F., Fiorentini, L., Frustaci, A., Galli, P., Garotto, G., Giancola, M. L., Giansante, F., Giombini, E., Greci, M. C., Ippolito, G., Lalle, E., Lanini, S., Lapa, D., Lepore, L., Lucia, A., Lufrani, F., Macchione, M., Marani, A., Marchioni, L., Mariano, A., Marini, M. C., Maritti, M., Matusali, G., Meschi, S., Montaldo, F. M. C., Murachelli, S., Noto, R., Palazzolo, C., Pallini, E., Passeri, V., Pelliccioni, F., Petrecchia, A., Petrone, A., Petrosillo, N., Pianura, E., Pisciotta, M., Pittalis, S., Proietti, C., Puro, V., Rinonapoli, G., Rueca, M., Sacchi, A., Sanasi, F., Santagata, C., Scarcia, S., Schinina, V., Scognamiglio, P., Scorzolini, L., Stazi, G., Vaia, F., Vairo, F., and Valli, M. B.
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0301 basic medicine ,Microbiology (medical) ,Pediatrics ,medicine.medical_specialty ,Down syndrome ,immuneactivation ,030106 microbiology ,Case Report ,medicine.disease_cause ,NO ,lcsh:Infectious and parasitic diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Clinical significance ,lcsh:RC109-216 ,030212 general & internal medicine ,COVID-19 pneumonia ,ComputingMethodologies_COMPUTERGRAPHICS ,Coronavirus ,Immune activation ,business.industry ,General Medicine ,Immune dysregulation ,medicine.disease ,Vaccination ,Pneumonia ,Infectious Diseases ,medicine.anatomical_structure ,business ,Trisomy ,Respiratory tract - Abstract
Graphical abstract, Highlights • Pro-inflammatory factors play a central role in COVID-19 severity and mortality. • Down Syndrome is characterized by immune dysregulation and respiratory infections. • Down Syndrome patients with COVID-19 are at high-risk for unfavourable outcome., We report two cases of COronaVIrus Disease-19 in patients with Down Syndrome and describe the identification, diagnosis, clinical course, and management of the infection. Down Syndrome, which is caused by trisomy 21, is characterized by immune dysregulation, anatomical differences in the upper respiratory tract, and higher rate of comorbidities. All these risk factors can contribute to more severe clinical presentations of COVID-19. It is essential to raise awareness of the clinical relevance of SARS-COV-2 infection in DS patients, as well in other most vulnerable patients in order to improve their management and treatment and to candidate these individuals for vaccination, once available.
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- 2021
39. 2019-novel Coronavirus severe adult respiratory distress syndrome in two cases in Italy: An uncommon radiological presentation
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Fabrizio Albarello, Elisa Pianura, Federica Di Stefano, Massimo Cristofaro, Ada Petrone, Luisa Marchioni, Claudia Palazzolo, Vincenzo Schininà, Emanuele Nicastri, Nicola Petrosillo, Paolo Campioni, Petersen Eskild, Alimuddin Zumla, Giuseppe Ippolito, Maria Alessandra Abbonizio, Chiara Agrati, Gioia Amadei, Alessandra Amendola, Mario Antonini, Raffaella Barbaro, Barbara Bartolini, Martina Benigni, Nazario Bevilacqua, Licia Bordi, Veronica Bordoni, Marta Branca, Maria Rosaria Capobianchi, Cinzia Caporale, Ilaria Caravella, Fabrizio Carletti, Concetta Castilletti, Roberta Chiappini, Carmine Ciaralli, Francesca Colavita, Angela Corpolongo, Salvatore Curiale, Alessandra D’Abramo, Cristina Dantimi, Alessia De Angelis, Giada De Angelis, Rachele Di Lorenzo, Federica Ferraro, Lorena Fiorentini, Andrea Frustaci, Paola Gallì, Gabriele Garotto, Maria Letizia Giancola, Filippo Giansante, Emanuela Giombini, Maria Cristina Greci, Eleonora Lalle, Simone Lanini, Daniele Lapa, Luciana Lepore, Andrea Lucia, Franco Lufrani, Manuela Macchione, Alessandra Marani, Andrea Mariano, Maria Cristina Marini, Micaela Maritti, Giulia Matusali, Silvia Meschi, Francesco Messina Chiara Montaldo, Silvia Murachelli, Roberto Noto, Emanuele Pallini, Virgilio Passeri, Federico Pelliccioni, Antonella Petrecchia, Maria Pisciotta, Silvia Pittalis, Costanza Proietti, Vincenzo Puro, Gabriele Rinonapoli, Martina Rueca, Alessandra Sacchi, Francesco Sanasi, Carmen Santagata, Silvana Scarcia, Paola Scognamiglio, Laura Scorzolini, Giulia Stazi, Francesco Vaia, Francesco Vairo, Maria Beatrice Valli, Albarello, F., Pianura, E., Di Stefano, F., Cristofaro, M., Petrone, A., Marchioni, L., Palazzolo, C., Schinina, V., Nicastri, E., Petrosillo, N., Campioni, P., Eskild, P., Zumla, A., Ippolito, G., Abbonizio, M. A., Agrati, C., Amadei, G., Amendola, A., Antonini, M., Barbaro, R., Bartolini, B., Benigni, M., Bevilacqua, N., Bordi, L., Bordoni, V., Branca, M., Capobianchi, M. R., Caporale, C., Caravella, I., Carletti, F., Castilletti, C., Chiappini, R., Ciaralli, C., Colavita, F., Corpolongo, A., Curiale, S., D'Abramo, A., Dantimi, C., Angelis, A. D., Angelis, G. D., Lorenzo, R. D., Stefano, F. D., Ferraro, F., Fiorentini, L., Frustaci, A., Galli, P., Garotto, G., Giancola, M. L., Giansante, F., Giombini, E., Greci, M. C., Lalle, E., Lanini, S., Lapa, D., Lepore, L., Lucia, A., Lufrani, F., Macchione, M., Marani, A., Mariano, A., Marini, M. C., Maritti, M., Matusali, G., Meschi, S., Montaldo, F. M. C., Murachelli, S., Noto, R., Pallini, E., Passeri, V., Pelliccioni, F., Petrecchia, A., Pisciotta, M., Pittalis, S., Proietti, C., Puro, V., Rinonapoli, G., Rueca, M., Sacchi, A., Sanasi, F., Santagata, C., Scarcia, S., Scognamiglio, P., Scorzolini, L., Stazi, G., Vaia, F., Vairo, F., and Valli, M. B.
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0301 basic medicine ,ARDS ,medicine.disease_cause ,0302 clinical medicine ,SARS-COV2 ,030212 general & internal medicine ,Lung ,Respiratory Distress Syndrome ,Respiratory distress ,Ground glass opacitie ,General Medicine ,Crazy-paving ,Infectious Diseases ,medicine.anatomical_structure ,Italy ,Severe acute respiratory syndrome-related coronavirus ,Radiological weapon ,Disease Progression ,Middle East Respiratory Syndrome Coronavirus ,Radiology ,medicine.symptom ,Presentation (obstetrics) ,Coronavirus Infections ,Ground glass opacities ,Adult ,Microbiology (medical) ,China ,medicine.medical_specialty ,Mediastinal lymphadenopathy ,Middle East respiratory syndrome coronavirus ,Pneumonia, Viral ,030106 microbiology ,Article ,NO ,lcsh:Infectious and parasitic diseases ,Lesion ,Betacoronavirus ,03 medical and health sciences ,medicine ,Humans ,LS7_2 ,lcsh:RC109-216 ,Pandemics ,Enlarged pulmonary vessel ,SARS-CoV-2 ,business.industry ,COVID-19 ,CT-scan ,Enlarged pulmonary vessels ,medicine.disease ,Tomography, X-Ray Computed ,business - Abstract
Highlights • The first two patients identified in Italy with COVID-19 presented remarkable imaging findings who progressed in adult respiratory distress syndrome. • Uncommon elements such as pleural effusions, a tubular and enlarged appearance of pulmonary vessels with a sudden caliber reduction and mediastinal lymphadenopathy were noted during the follow-up. • The vessels appearance during the follow up, resembling a “feeding vessel sign”, could be an early alert radiological sign to predict initial lung deterioration., Introduction Several recent case reports have described common early chest imaging findings of lung pathology caused by 2019 novel Coronavirus (SARS-COV2) which appear to be similar to those seen previously in SARS-CoV and MERS-CoV infected patients. Objective We present some remarkable imaging findings of the first two patients identified in Italy with COVID-19 infection travelling from Wuhan, China. The follow-up with chest X-Rays and CT scans was also included, showing a progressive adult respiratory distress syndrome (ARDS). Results Moderate to severe progression of the lung infiltrates, with increasing percentage of high-density infiltrates sustained by a bilateral and multi-segmental extension of lung opacities, were seen. During the follow-up, apart from pleural effusions, a tubular and enlarged appearance of pulmonary vessels with a sudden caliber reduction was seen, mainly found in the dichotomic tracts, where the center of a new insurgent pulmonary lesion was seen. It could be an early alert radiological sign to predict initial lung deterioration. Another uncommon element was the presence of mediastinal lymphadenopathy with short-axis oval nodes. Conclusions Although only two patients have been studied, these findings are consistent with the radiological pattern described in literature. Finally, the pulmonary vessels enlargement in areas where new lung infiltrates develop in the follow-up CT scan, could describe an early predictor radiological sign of lung impairment.
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- 2020
40. Risk and predictive factors of prolonged viral RNA shedding in upper respiratory specimens in a large cohort of COVID-19 patients admitted in an Italian Reference Hospital
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Annalisa Mondi, Patrizia Lorenzini, Concetta Castilletti, Roberta Gagliardini, Eleonora Lalle, Angela Corpolongo, Maria Beatrice Valli, Fabrizio Taglietti, Stefania Cicalini, Laura Loiacono, Francesco Di Gennaro, Gianpiero D’Offizi, Fabrizio Palmieri, Emanuele Nicastri, Chiara Agrati, Nicola Petrosillo, Giuseppe Ippolito, Francesco Vaia, Enrico Girardi, Maria Rosaria Capobianchi, Andrea Antinori, Sara Zito, Maria Alessandra Abbonizio, Amina Abdeddaim, Elisabetta Agostini, Fabrizio Albarello, Gioia Amadei, Alessandra Amendola, Maria Assunta Antonica, Mario Antonini, Tommaso Ascoli Bartoli, Francesco Baldini, Raffaella Barbaro, Barbara Bartolini, Rita Bellagamba, Martina Benigni, Nazario Bevilacqua, Gianluigi Biava, Michele Bibas, Licia Bordi, Veronica Bordoni, Evangelo Boumis, Marta Branca, Rosanna Buonomo, Donatella Busso, Marta Camici, Paolo Campioni, Flaminia Canichella, Alessandro Capone, Cinzia Caporale, Emanuela Caraffa, Ilaria Caravella, Fabrizio Carletti, Adriana Cataldo, Stefano Cerilli, Carlotta Cerva, Roberta Chiappini, Pierangelo Chinello, Maria Assunta Cianfarani, Carmine Ciaralli, Claudia Cimaglia, Nicola Cinicola, Veronica Ciotti, Francesca Colavita, Massimo Cristofaro, Salvatore Curiale, Alessandra D’Abramo, Cristina Dantimi, Alessia De Angelis, Giada De Angelis, Maria Grazia De Palo, Federico De Zottis, Virginia Di Bari, Rachele Di Lorenzo, Federica Di Stefano, Davide Donno, Francesca Evangelista, Francesca Faraglia, Anna Farina, Federica Ferraro, Lorena Fiorentini, Andrea Frustaci, Matteo Fusetti, Vincenzo Galati, Paola Gallì, Gabriele Garotto, Ilaria Gaviano, Saba Gebremeskel Tekle, Maria Letizia Giancola, Filippo Giansante, Emanuela Giombini, Guido Granata, Maria Cristina Greci, Elisabetta Grilli, Susanna Grisetti, Gina Gualano, Fabio Iacomi, Marta Iaconi, Giuseppina Iannicelli, Carlo Inversi, Maria Elena Lamanna, Simone Lanini, Daniele Lapa, Luciana Lepore, Raffaella Libertone, Raffaella Lionetti, Giuseppina Liuzzi, Andrea Lucia, Franco Lufrani, Manuela Macchione, Gaetano Maffongelli, Alessandra Marani, Luisa Marchioni, Andrea Mariano, Maria Cristina Marini, Micaela Maritti, Annelisa Mastrobattista, Ilaria Mastrorosa, Giulia Matusali, Valentina Mazzotta, Paola Mencarini, Silvia Meschi, Francesco Messina, Sibiana Micarelli, Giulia Mogavero, Marzia Montalbano, Chiara Montaldo, Silvia Mosti, Silvia Murachelli, Maria Musso, Michela Nardi, Assunta Navarra, Martina Nocioni, Pasquale Noto, Roberto Noto, Alessandra Oliva, Ilaria Onnis, Sandrine Ottou, Claudia Palazzolo, Emanuele Pallini, Giulio Palombi, Carlo Pareo, Virgilio Passeri, Federico Pelliccioni, Giovanna Penna, Antonella Petrecchia, Ada Petrone, Elisa Pianura, Carmela Pinnetti, Maria Pisciotta, Pierluca Piselli, Silvia Pittalis, Agostina Pontarelli, Costanza Proietti, Vincenzo Puro, Paolo Migliorisi Ramazzini, Alessia Rianda, Gabriele Rinonapoli, Silvia Rosati, Dorotea Rubino, Martina Rueca, Alberto Ruggeri, Alessandra Sacchi, Alessandro Sampaolesi, Francesco Sanasi, Carmen Santagata, Alessandra Scarabello, Silvana Scarcia, Vincenzo Schininà, Paola Scognamiglio, Laura Scorzolini, Giulia Stazi, Giacomo Strano, Chiara Taibi, Giorgia Taloni, Tetaj Nardi, Roberto Tonnarini, Simone Topino, Martina Tozzi, Francesco Vairo, Alessandra Vergori, Laura Vincenzi, Ubaldo Visco-Comandini, Serena Vita, Pietro Vittozzi, Mauro Zaccarelli, Antonella Zanetti, Mondi, A., Lorenzini, P., Castilletti, C., Gagliardini, R., Lalle, E., Corpolongo, A., Valli, M. B., Taglietti, F., Cicalini, S., Loiacono, L., Di Gennaro, F., D'Offizi, G., Palmieri, F., Nicastri, E., Agrati, C., Petrosillo, N., Ippolito, G., Vaia, F., Girardi, E., Capobianchi, M. R., Antinori, A., Zito, S., Abbonizio, M. A., Abdeddaim, A., Agostini, E., Albarello, F., Amadei, G., Amendola, A., Antonica, M. A., Antonini, M., Bartoli, T. A., Baldini, F., Barbaro, R., Bartolini, B., Bellagamba, R., Benigni, M., Bevilacqua, N., Biava, G., Bibas, M., Bordi, L., Bordoni, V., Boumis, E., Branca, M., Buonomo, R., Busso, D., Camici, M., Campioni, P., Canichella, F., Capone, A., Caporale, C., Caraffa, E., Caravella, I., Carletti, F., Cataldo, A., Cerilli, S., Cerva, C., Chiappini, R., Chinello, P., Cianfarani, M. A., Ciaralli, C., Cimaglia, C., Cinicola, N., Ciotti, V., Colavita, F., Cristofaro, M., Curiale, S., D'Abramo, A., Dantimi, C., De Angelis, A., De Angelis, G., De Palo, M. G., De Zottis, F., Di Bari, V., Di Lorenzo, R., Di Stefano, F., Donno, D., Evangelista, F., Faraglia, F., Farina, A., Ferraro, F., Fiorentini, L., Frustaci, A., Fusetti, M., Galati, V., Galli, P., Garotto, G., Gaviano, I., Tekle, S. G., Giancola, M. L., Giansante, F., Giombini, E., Granata, G., Greci, M. C., Grilli, E., Grisetti, S., Gualano, G., Iacomi, F., Iaconi, M., Iannicelli, G., Inversi, C., Lamanna, M. E., Lanini, S., Lapa, D., Lepore, L., Libertone, R., Lionetti, R., Liuzzi, G., Lucia, A., Lufrani, F., Macchione, M., Maffongelli, G., Marani, A., Marchioni, L., Mariano, A., Marini, M. C., Maritti, M., Mastrobattista, A., Mastrorosa, I., Matusali, G., Mazzotta, V., Mencarini, P., Meschi, S., Messina, F., Micarelli, S., Mogavero, G., Montalbano, M., Montaldo, C., Mosti, S., Murachelli, S., Musso, M., Nardi, M., Navarra, A., Nocioni, M., Noto, P., Noto, R., Oliva, A., Onnis, I., Ottou, S., Palazzolo, C., Pallini, E., Palombi, G., Pareo, C., Passeri, V., Pelliccioni, F., Penna, G., Petrecchia, A., Petrone, A., Pianura, E., Pinnetti, C., Pisciotta, M., Piselli, P., Pittalis, S., Pontarelli, A., Proietti, C., Puro, V., Ramazzini, P. M., Rianda, A., Rinonapoli, G., Rosati, S., Rubino, D., Rueca, M., Ruggeri, A., Sacchi, A., Sampaolesi, A., Sanasi, F., Santagata, C., Scarabello, A., Scarcia, S., Schinina, V., Scognamiglio, P., Scorzolini, L., Stazi, G., Strano, G., Taibi, C., Taloni, G., Nardi, T., Tonnarini, R., Topino, S., Tozzi, M., Vairo, F., Vergori, A., Vincenzi, L., Visco-Comandini, U., Vita, S., Vittozzi, P., Zaccarelli, M., and Zanetti, A.
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Male ,0301 basic medicine ,Time Factors ,medicine.medical_treatment ,Respiratory System ,coronavirus ,Infectious and parasitic diseases ,RC109-216 ,Severity of Illness Index ,Cohort Studies ,0302 clinical medicine ,risk factors ,030212 general & internal medicine ,Respiratory disease ,General Medicine ,Middle Aged ,Virus Shedding ,Infectious Diseases ,symbols ,RNA, Viral ,Female ,Coronavirus ,COVID-19, viral clearance, viral shedding ,Risk factors ,SARS-CoV-2 ,Cohort study ,Adult ,Microbiology (medical) ,medicine.medical_specialty ,viral shedding ,Coronaviru ,030106 microbiology ,Article ,NO ,03 medical and health sciences ,symbols.namesake ,Internal medicine ,Severity of illness ,medicine ,Humans ,Poisson regression ,Aged ,Proportional Hazards Models ,Mechanical ventilation ,business.industry ,Proportional hazards model ,COVID-19 ,Retrospective cohort study ,medicine.disease ,Respiratory failure ,Risk factor ,business ,viral clearance - Abstract
Background Few data about predictors and outcomes associated with prolonged SARS-CoV-2 RNA shedding (VS) are available. Methods Retrospective study including all patients admitted with COVID-19 in an Italian reference hospital for infectious diseases between March 1 and July 1, 2020. Predictors of viral clearance (VC) and prolonged VS from upper respiratory tract were assessed by Poisson regression and logistic regression analyses. The causal relation between duration of VS and probability of clinical outcomes was evaluated through inverse probability weighted Cox model. Results 536 subjects were included. Median duration of VS from symptoms onset was 18 days (IQR 12-26). The estimated 30-day probability of VC was 70.2% (95%CI:65-75). At multivariable analysis, patients with comorbidities (aIRR = 0.88, p = 0.004), lymphopenia at hospital admission (aIRR = 0.75, p = 0.032) and with moderate/severe respiratory disease (aIRR = 0.42, p 1000 ng/mL at admission (aOR = 1.76, p = 0.035) independently predicted prolonged VS. The achievement of VC doubled the chance of clinical recovery (aHR = 2.17, p
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- 2021
41. Clavicle fractures in the United States military: incidence and characteristics.
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Hsiao MS, Cameron KL, Huh J, Hsu JR, Benigni M, Whitener JC, Owens BD, Hsiao, Mark S, Cameron, Kenneth L, Huh, Jeannie, Hsu, Joseph R, Benigni, Matthew, Whitener, JoAnna C, and Owens, Brett D
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Background: Although it is generally known that clavicle fractures represent a common injury of the shoulder girdle in the general population, the true incidence in the active duty military population is unknown. Given the implications for such injuries on the ability to perform occupation-specific tasks, determining the incidence in the U.S. military population is worthwhile. The purpose of this study was to determine the incidence of clavicle fractures in the U.S. military and to identify any demographic risk factors for injury.Methods: We performed a query of the Defense Medical Epidemiology Database with the code from the International Classification of Diseases, Ninth Revision, for clavicle fractures for the years 1999 through 2008. An overall injury incidence was calculated, in addition to multivariate analysis, to determine independent risk factors among the following demographic considerations: sex, race, branch of military service, rank, and age.Results: During the study period, a total of 12,514 clavicle fractures were documented among an at-risk population of 13,770,767 person-years for an incidence rate (IR) of 0.91 per 1,000 person-years in the U.S. Military. Males, when compared with females, were more than twice as likely to sustain a clavicle fracture (IR ratios [IRR], 2.30; 95% confidence intervals [CI], 2.12-2.49). The peak incidence of clavicle fractures occurred in the age groups of <20 and 20 to 24. Compared to black service members, the white service members were associated with significantly higher rate of clavicle fractures (IRR, 2.45; 95% CI, 2.28-2.63). The service members serving in the Marine Corps were associated with a higher IR of clavicle fractures when compared to those in the Navy (IRR, 1.44; 95% CI, 1.35-1.53). Junior enlisted service members were 34% as likely to sustain a clavicle fracture when compared to senior officers (IRR, 1.46; 95% CI, 1.34-1.60 and IRR, 1.12; 95% CI, 0.99-1.28, respectively).Conclusions: The incidence of clavicle fractures among U.S. military personnel (0.908 per 1,000 person-years) is higher than previous epidemiological reports. [ABSTRACT FROM AUTHOR]- Published
- 2012
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42. HFE p.H63D polymorphism does not influence ALS phenotype and survival
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Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Penco, Silvana, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Logroscino, Giancarlo, Bartolomei, Ilaria, Capasso, Margherita, Mancardi, Gianluigi, Origone, Paola, Marinou, Kalliopi, Sideri, Riccardo, Mosca, Lorena, Pinter, Giuseppe Lauria, Corbo, Massimo, Fini, Nicola, Georgoulopoulou, Eleni, Tremolizzo, Lucio, Piccirillo, Giovanni, Cristillo, Viviana, Spataro, Rossella, Colletti, Tiziana, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Pisano, Fabrizio, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Ticca, Anna, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Ortu, Enzo, Cau, Tea B., Loi, Daniela, MONSURRO', Maria Rosaria, TEDESCHI, Gioacchino, TROJSI, Francesca, Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurro', Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Penco, Silvana, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Logroscino, Giancarlo, Bartolomei, Ilaria, Capasso, Margherita, Mancardi, Gianluigi, Origone, Paola, Marinou, Kalliopi, Sideri, Riccardo, Mosca, Lorena, Pinter, Giuseppe Lauria, Corbo, Massimo, Fini, Nicola, Georgoulopoulou, Eleni, Tremolizzo, Lucio, Tedeschi, Gioacchino, Trojsi, Francesca, Piccirillo, Giovanni, Cristillo, Viviana, Spataro, Rossella, Colletti, Tiziana, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Pisano, Fabrizio, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Ticca, Anna, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Ortu, Enzo, Cau, Tea B., Loi, Daniela, Chio, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Monsurro, M, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Nilo, R, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Zollino, M, Conforti, F, Penco, S, Brunetti, M, Barberis, M, Restagno, G, Logroscino, G, Bartolomei, I, Capasso, M, Mancardi, G, Origone, P, Marinou, K, Sideri, R, Mosca, L, Pinter, G, Corbo, M, Fini, N, Georgoulopoulou, E, Tremolizzo, L, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Battistini, S, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Ortu, E, Cau, T, and Loi, D
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Male ,Aging ,Survival ,Settore MED/03 - GENETICA MEDICA ,Mice ,Superoxide Dismutase-1 ,C9orf72 ,HFE polymorphism ,Amyotrophic lateral sclerosis ,HFE polymorphisms ,Phenotype ,SOD1 ,Aged ,Alleles ,Amyotrophic Lateral Sclerosis ,Animals ,Disease Progression ,Female ,Hemochromatosis Protein ,Histocompatibility Antigens Class I ,Humans ,Italy ,Membrane Proteins ,Middle Aged ,Polymorphism, Genetic ,Superoxide Dismutase ,Survival Rate ,Genetic Association Studies ,Membrane Protein ,Allele ,Neurology (clinical) ,Neuroscience (all) ,Developmental Biology ,Geriatrics and Gerontology ,General Neuroscience ,phenotype ,survival ,Human ,medicine.medical_specialty ,Genetic Association Studie ,Biology ,TARDBP ,Article ,Genetic ,Internal medicine ,medicine ,Polymorphism ,Survival rate ,Amyotrophic lateral sclerosi ,Animal ,nutritional and metabolic diseases ,medicine.disease ,Minor allele frequency ,Endocrinology ,Immunology - Abstract
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significantly differ by age at onset, site of onset of symptoms, and survival; however, in SOD1 patients with CG or GG polymorphism had a significantly longer survival than those with a CC polymorphism. Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients.
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- 2015
43. Spatio-temporal improvised explosive device monitoring: improving detection to minimise attacks
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Matthew Benigni, Reinhard Furrer, University of Zurich, and Benigni, M
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Statistics and Probability ,Computer science ,Real-time computing ,Poisson process ,Statistical model ,Bivariate analysis ,symbols.namesake ,10123 Institute of Mathematics ,Explosive device ,510 Mathematics ,Linear referencing ,Battlefield ,Dimension (vector space) ,symbols ,1804 Statistics, Probability and Uncertainty ,Statistics, Probability and Uncertainty ,2613 Statistics and Probability ,Intensity (heat transfer) - Abstract
The improvised explosive device (IED) is a weapon of strategic influence on today's battlefield. IED detonations occur predominantly on roads, footpaths, or trails. Therefore, locations are best described when constrained to the road network, and some spaces on the network are more dangerous at specific times of the day. We propose a statistical model that reduces the spatial location to one dimension and uses a cyclic time as a second dimension. Based on the Poisson process methodology, we develop normalised, inhomogeneous, bivariate intensity functions measuring the threat of attack to support resourcing decisions. A simulation and an analysis of attacks on a main supply route in Baghdad are given to illustrate the proposed methods. Additionally, we provide an overview of the growing demand for the analysis efforts in support of operations in Afghanistan and Iraq, and provide an extensive literature review of developments in counter-IED analysis.
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- 2012
44. Profiling Bacteria in the Lungs of Patients with Severe Influenza Versus COVID-19 with or without Aspergillosis.
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Feys S, Cardinali-Benigni M, Lauwers HM, Jacobs C, Stevaert A, Gonçalves SM, Cunha C, Debaveye Y, Hermans G, Heylen J, Humblet-Baron S, Lagrou K, Maessen L, Meersseman P, Peetermans M, Redondo-Rios A, Seldeslachts L, Starick MR, Thevissen K, Vande Velde G, Vandenbriele C, Vanderbeke L, Wilmer A, Naesens L, van de Veerdonk FL, Van Weyenbergh J, Gabaldón T, Wauters J, and Carvalho A
- Abstract
Rationale: The influence of the lung bacterial microbiome, including potential pathogens, in patients with influenza- or COVID-19-associated pulmonary aspergillosis (IAPA or CAPA) is yet to be explored., Objectives: To explore the composition of the lung bacterial microbiome and its association with viral and fungal infection, immunity and outcome in severe influenza versus COVID-19 with or without aspergillosis., Methods: We performed a retrospective study in mechanically ventilated influenza and COVID-19 patients with or without invasive aspergillosis in whom bronchoalveolar lavage (BAL) for bacterial culture (with or without PCR) was obtained within two weeks after ICU admission. Additionally, 16S rRNA gene sequencing data and viral and bacterial load of BAL samples from a subset of these patients, and of patients requiring non-invasive ventilation, were analyzed. We integrated 16S rRNA gene sequencing data with existing immune parameter datasets., Measurements and Main Results: Potential bacterial pathogens were detected in 20% (28/142) of influenza and 37% (104/281) of COVID-19 patients, while aspergillosis was detected in 38% (54/142) of influenza and 31% (86/281) of COVID-19 patients. A significant association between bacterial pathogens in BAL and 90-day mortality was found only in influenza patients, particularly IAPA patients. COVID-19 but not influenza patients showed increased pro-inflammatory pulmonary cytokine responses to bacterial pathogens., Conclusions: Aspergillosis is more frequently detected in lungs of severe influenza patients than bacterial pathogens. Detection of bacterial pathogens associates with worse outcome in influenza patients, particularly in those with IAPA, but not in COVID-19 patients. The immunological dynamics of tripartite viral-fungal-bacterial interactions deserve further investigation. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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- 2024
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45. Risk and predictive factors of prolonged viral RNA shedding in upper respiratory specimens in a large cohort of COVID-19 patients admitted to an Italian reference hospital.
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Mondi A, Lorenzini P, Castilletti C, Gagliardini R, Lalle E, Corpolongo A, Valli MB, Taglietti F, Cicalini S, Loiacono L, Di Gennaro F, D'Offizi G, Palmieri F, Nicastri E, Agrati C, Petrosillo N, Ippolito G, Vaia F, Girardi E, Capobianchi MR, Antinori A, Zito S, Abbonizio MA, Abdeddaim A, Agostini E, Agrati C, Albarello F, Amadei G, Amendola A, Antinori A, Antonica MA, Antonini M, Bartoli TA, Baldini F, Barbaro R, Bartolini B, Bellagamba R, Benigni M, Bevilacqua N, Biava G, Bibas M, Bordi L, Bordoni V, Boumis E, Branca M, Buonomo R, Busso D, Camici M, Campioni P, Canichella F, Capobianchi MR, Capone A, Caporale C, Caraffa E, Caravella I, Carletti F, Castilletti C, Cataldo A, Cerilli S, Cerva C, Chiappini R, Chinello P, Cianfarani MA, Ciaralli C, Cimaglia C, Cinicola N, Ciotti V, Cicalini S, Colavita F, Corpolongo A, Cristofaro M, Curiale S, D'Abramo A, Dantimi C, De Angelis A, De Angelis G, De Palo MG, De Zottis F, Di Bari V, Di Lorenzo R, Di Stefano F, D'Offizi G, Donno D, Evangelista F, Faraglia F, Farina A, Ferraro F, Fiorentini L, Frustaci A, Fusetti M, Galati V, Gagliardini R, Gallì P, Garotto G, Gaviano I, Tekle SG, Giancola ML, Giansante F, Giombini E, Granata G, Greci MC, Grilli E, Grisetti S, Gualano G, Iacomi F, Iaconi M, Iannicelli G, Inversi C, Ippolito G, Lalle E, Lamanna ME, Lanini S, Lapa D, Lepore L, Libertone R, Lionetti R, Liuzzi G, Loiacono L, Lucia A, Lufrani F, Macchione M, Maffongelli G, Marani A, Marchioni L, Mariano A, Marini MC, Maritti M, Mastrobattista A, Mastrorosa I, Matusali G, Mazzotta V, Mencarini P, Meschi S, Messina F, Micarelli S, Mogavero G, Mondi A, Montalbano M, Montaldo C, Mosti S, Murachelli S, Musso M, Nardi M, Navarra A, Nicastri E, Nocioni M, Noto P, Noto R, Oliva A, Onnis I, Ottou S, Palazzolo C, Pallini E, Palmieri F, Palombi G, Pareo C, Passeri V, Pelliccioni F, Penna G, Petrecchia A, Petrone A, Petrosillo N, Pianura E, Pinnetti C, Pisciotta M, Piselli P, Pittalis S, Pontarelli A, Proietti C, Puro V, Ramazzini PM, Rianda A, Rinonapoli G, Rosati S, Rubino D, Rueca M, Ruggeri A, Sacchi A, Sampaolesi A, Sanasi F, Santagata C, Scarabello A, Scarcia S, Schininà V, Scognamiglio P, Scorzolini L, Stazi G, Strano G, Taglietti F, Taibi C, Taloni G, Nardi T, Tonnarini R, Topino S, Tozzi M, Vaia F, Vairo F, Valli MB, Vergori A, Vincenzi L, Visco-Comandini U, Vita S, Vittozzi P, Zaccarelli M, Zanetti A, and Zito S
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- Adult, Aged, Cohort Studies, Female, Humans, Male, Middle Aged, Proportional Hazards Models, Severity of Illness Index, Time Factors, COVID-19 virology, RNA, Viral analysis, Respiratory System virology, SARS-CoV-2 isolation & purification, Virus Shedding
- Abstract
Background: Limited data are available about the predictors and outcomes associated with prolonged SARS-CoV-2 RNA shedding (VS)., Methods: A retrospective study including COVID-19 patients admitted to an Italian hospital between March 1 and July 1, 2020. Predictors of viral clearance (VC) and prolonged VS from the upper respiratory tract were assessed by Poisson regression and logistic regression analyses. The causal relation between VS and clinical outcomes was evaluated through an inverse probability weighted Cox model., Results: The study included 536 subjects. The median duration of VS from symptoms onset was 18 days. The estimated 30-day probability of VC was 70.2%. Patients with comorbidities, lymphopenia at hospital admission, or moderate/severe respiratory disease had a lower chance of VC. The development of moderate/severe respiratory failure, delayed hospital admission after symptoms onset, baseline comorbidities, or D-dimer >1000ng/mL at admission independently predicted prolonged VS. The achievement of VC doubled the chance of clinical recovery and reduced the probability of death/mechanical ventilation., Conclusions: Respiratory disease severity, comorbidities, delayed hospital admission and inflammatory markers negatively predicted VC, which resulted to be associated with better clinical outcomes. These findings highlight the importance of prompt hospitalization of symptomatic patients, especially where signs of severity or comorbidities are present., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)
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- 2021
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46. Development of microemulsions of suitable viscosity for cyclosporine skin delivery.
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Benigni M, Pescina S, Grimaudo MA, Padula C, Santi P, and Nicoli S
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- Administration, Cutaneous, Animals, Cyclosporine chemistry, Cyclosporine metabolism, Drug Compounding, Emulsions, Ethylene Glycols chemistry, Humans, Immunosuppressive Agents chemistry, Immunosuppressive Agents metabolism, Kinetics, Models, Biological, Oleic Acid chemistry, Polysorbates chemistry, Propylene Glycols chemistry, Rheology, Sus scrofa, Technology, Pharmaceutical methods, Viscosity, Vitamin E chemistry, Cyclosporine administration & dosage, Drug Carriers chemistry, Immunosuppressive Agents administration & dosage, Skin metabolism, Skin Absorption, Surface-Active Agents chemistry
- Abstract
Psoriasis is a widespread chronic disease affecting 2-4% of the population in Western countries. Its mild-to-moderate form, representing approximately 80% of the total cases, is treated by topical application, with corticosteroid being the standard treatment. However, in case of psoriasis, no single treatment works for every patient and optimizing topical therapy is a key aspect. A possible alternative is represented by cyclosporine, an immunosuppressant cyclic peptide administered orally in the treatment of the severe form. Its topical application could avoid the problems related to systemic immunosuppression, but the unfavourable physico-chemical properties (MW: 1202 Da; LogP ≈ 3) hinder its permeation across the stratum corneum. The aim of the paper was the preparation, characterization and ex-vivo evaluation of cyclosporine loaded microemulsions using oleic acid as oil phase, either Tween
® 80 or a soluble derivative of vitamin E (TPGS) as surfactants and either Transcutol® , propylene glycol or 1,3 propanediol as co-surfactants. The issue of formulation viscosity was also addressed 1) by evaluating the thickening of Tween® 80-based microemulsions by direct addition of different rheological modifiers, 2) by building pseudo-ternary phase diagrams using TPGS, to identify the water/oil/surfactants proportions resulting in viscous self-gelifying systems. Nine formulations (five Tween® 80-based and four TPGS-based) were selected, characterized in terms of droplets size (low viscosity systems) or rheological properties (high viscosity systems), loaded with 6 mg/g cyclosporine and applied ex-vivo on porcine skin for 22 h. A relevant skin accumulation was obtained either with a low-viscosity Tween® 80-based microemulsion (9.78 ± 3.86 µg/cm2 ), or with a high viscosity TPGS-based microemulsion (18.3 ± 5.69 µg/cm2 ), with an increase of about 3 and 6 times respectively for comparison with a control cyclosporine solution in propylene glycol. The role of water content, surfactant, co-surfactant and viscosity was also addressed and discussed. The kinetic of skin uptake from the best performing formulation was finally evaluated, highlighting a relatively quick skin uptake and the achievement, after 2 h of contact, of potentially therapeutic cyclosporine skin concentrations., (Copyright © 2018 Elsevier B.V. All rights reserved.)- Published
- 2018
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47. Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients.
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Benigni M, Ricci C, Jones AR, Giannini F, Al-Chalabi A, and Battistini S
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- Diagnosis, Differential, Humans, Real-Time Polymerase Chain Reaction, Amyotrophic Lateral Sclerosis cerebrospinal fluid, Amyotrophic Lateral Sclerosis diagnosis, Biomarkers cerebrospinal fluid, MicroRNAs cerebrospinal fluid
- Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disorder. Since no diagnostic laboratory test exists, the identification of specific biomarkers could be fundamental in clinical practice. microRNAs (miRNAs) are considered promising biomarkers for neurodegenerative diseases. The aim of the study was to identify a CSF miRNA set that could differentiate ALS from non-ALS condition. miRNA profiling in CSF from ALS patients (n = 24; eight with C9orf72 expansion) and unaffected control subjects (n = 24) by quantitative reverse transcription PCR identified fourteen deregulated miRNAs. Validation experiments confirmed eight miRNAs as significantly deregulated in ALS. No significant differences were observed between ALS patients with or without C9orf72 expansion. The receiver operator characteristic (ROC) curve analyses revealed the highest diagnostic accuracy for the upregulated miR181a-5p and the downregulated miR21-5p and miR15b-5p. The miR181a-5p/miR21-5p and miR181a-5p/miR15b-5p ratios detected ALS with 90 and 85 % sensitivity and 87 and 91 % specificity, respectively, confirming the application potential as disease biomarkers. These deregulated miRNAs are implicated in apoptotic way and provide insight into processes responsible for motor neuron degeneration.
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- 2016
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48. Vertical Bone Augmentation with an Autogenous Block or Particles in Combination with Guided Bone Regeneration: A Clinical and Histological Preliminary Study in Humans.
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Rocchietta I, Simion M, Hoffmann M, Trisciuoglio D, Benigni M, and Dahlin C
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- Adult, Aged, Alveolar Ridge Augmentation methods, Bone Regeneration, Female, Humans, Jaw, Edentulous, Partially diagnostic imaging, Jaw, Edentulous, Partially surgery, Male, Mandible surgery, Membranes, Artificial, Middle Aged, Polytetrafluoroethylene, Prospective Studies, Radiography, Panoramic, Transplantation, Autologous, Treatment Outcome, Bone Transplantation methods, Dental Implantation, Endosseous methods, Guided Tissue Regeneration methods
- Abstract
Background: Vertical ridge augmentation with the use of solid bone blocks or particulate bone autograft, exposed or covered by a nonresorbable expanded polytetrafluoroethylene (ePTFE) membrane, are well known in the literature and have been shown to be effective in treating bone atrophy., Purpose: The aim of our study was to assess the two techniques in respect to biological properties of transplanted bone in graft revascularization and bone remodeling in conjunction with dental implants., Materials and Methods: Ten patients were treated within the study, with a total of 12 sites with posterior mandibular edentulous ridges with insufficient bone to allow implant placement. Bone regeneration was performed using autogenous intraoral block graft or autogenous particulate graft with an ePTFE barrier membrane. At 6-10 months, reentry surgery was performed; bone biopsies, including microscrews, were harvested; and implants were placed., Results: Eleven sites out of 12 healed uneventfully. A mean height gain of 5.03 mm was achieved. Mean bone-to-implant contact and bone fill were assessed by means of histomorphometric analysis. The block specimens revealed a bone-to-implant contact of 42.34%, and the particulate grafts had a bone-to-implant contact of 26.62% (p < .012). Bone fill values reported were 68.32% and 48.28% (p < .019) for block specimens versus particulate grafts., Conclusions: The results clearly showed that both techniques were clinically successful for subsequent implant placement and prosthetic rehabilitation. The histological outcomes, including revascularization and bone remodeling, of the two techniques differed significantly. The block grafts outperformed the particulate grafts in terms of bone-to-implant contact and bone fill values; however, the morbidity associated with the donor site of the block must be considered., (© 2015 Wiley Periodicals, Inc.)
- Published
- 2016
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49. Measuring and benchmarking the quality of two different organizational ways in delivering infant vaccination.
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Maurici M, Paulon L, Carlino C, Campolongo A, Catapano R, Sgricia S, Franco E, Bagnato B, Benigni M, D'Anna C, Di Marzio L, Ferrante M, Fraioli A, Giordani A, Laudati F, Mangia ML, Marchetti C, Meleleo C, Papa R, Perrelli F, Pozzato S, Rabbiosi S, Rossi S, Seminara L, Serino L, Sinopoli MT, and Sorbara D
- Subjects
- Child, Preschool, Communication, Humans, Infant, Italy, Benchmarking, Immunization Programs, Vaccination standards
- Abstract
The aim of this study was the quality of service evaluation of two different organizational ways in delivering infant vaccination according to a Regional Vaccination Plan. Eleven vaccination centres were selected in two Local Health Units (ASLs) belonging to the Regional Health Service of the Lazio Region, Italy. The services offering paediatric vaccinations for children under three years of age, delivered without an appointment (VACP) or with the need for an appointment (VACL), were investigated. The quality aspects under evaluation were communicational efficiency, organisational efficiency and comfort. Subjective data were collected from different stakeholders and involve the elicitation of best and worst feasible performance conditions for the ASLs when delivering VACP/VACL services. Objective data consists in the observation of current performances of the selected vaccination centres. Quality scorecards were obtained from the combination of all data. Benchmarking between VACP and VACL, i.e., two different organisational ways in delivering infant vaccination, can be performed as a result of the probabilistic meaning of the evaluated scores. An expert of vaccination services, i.e., a virtual combination of patients, doctors and nurses, claims the quality of service delivery of the ASLs under investigation with probability 78.03% and 69.67% for VACP and VACL, respectively. In other words, for short, the quality scores of the ASLs were 78.03% for VACP and 69.67% for VACL. Furthermore our results show how to practically improve the current service delivery. The QuaVaTAR approach can result in improvements of the quality of the ASLs for the two different ways of delivering paediatric vaccinations in a simple and intuitive way.
- Published
- 2016
50. Shoulder impingement in the United States military.
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Hsiao MS, Cameron KL, Tucker CJ, Benigni M, Blaine TA, and Owens BD
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- Adult, Cross-Sectional Studies, Databases, Factual, Female, Humans, Incidence, Male, Retrospective Studies, Shoulder Pain epidemiology, United States epidemiology, Young Adult, Military Personnel statistics & numerical data, Shoulder Impingement Syndrome epidemiology
- Abstract
Background: Little is known about the incidence and characteristics of primary, or external, shoulder impingement in an occupationally and physically active population. A longitudinal, prospective epidemiologic database was used to determine the incidence and risk factors for shoulder subacromial impingement in the United States (U.S.) military. Our hypothesis was that shoulder impingement is influenced by age, sex, race, military rank, and branch of service., Methods: The Defense Medical Epidemiology Database was queried for all shoulder impingement injuries using International Classification of Disease, Ninth Addition, Clinical Modification code 726.10 within a 10-year period from 1999 through 2008. An overall injury incidence was calculated, and a multivariate analysis performed among demographic groups., Results: In an at-risk population of 13,768,534 person-years, we identified 106,940 cases of shoulder impingement resulting in an incidence of 7.77/1000 person-years in the U.S. military. The incidence of shoulder impingement increased with age and was highest in the group aged ≥40 years (incidence rate ratio [IRR], 4.90; 95% confidence interval [CI], 4.61-5.21), was 9.5% higher among men (IRR, 1.10, 95% CI, 1.06-1.13), and compared with service members in the Navy, those in the Air Force, Army, and Marine Corps were associated with higher rates of shoulder impingement (IRR, 1.46 [95% CI, 1.42-1.50], 1.42 [95% CI, 1.39-1.46], and 1.31 [95% CI, 1.26-1.36], respectively)., Conclusions: The incidence of shoulder impingement among U.S. military personnel is 7.77/1000 person-years. An age of ≥40 years was a significant independent risk factor for injury., (Published by Elsevier Inc.)
- Published
- 2015
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