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779 results on '"Servidei, Serenella"'

3. Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

Author

Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D’Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A., Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, and Ferlini, Alessandra

Published
2023
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8. Hospital admissions from the emergency department of adult patients affected by myopathies

Author

Monforte, Mauro, Torchia, Eleonora, Bortolani, Sara, Ravera, Beatrice, Ricci, Enzo, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido Alessandro, Mirabella, Massimiliano, Sabatelli, Mario, Mercuri, Eugenio Maria, Franceschi, Francesco, Calabresi, Paolo, Covino, Marcello, Tasca, Giorgio, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido, Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Franceschi, Francesco (ORCID:0000-0001-6266-445X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), Covino, Marcello (ORCID:0000-0002-6709-2531), Monforte, Mauro, Torchia, Eleonora, Bortolani, Sara, Ravera, Beatrice, Ricci, Enzo, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido Alessandro, Mirabella, Massimiliano, Sabatelli, Mario, Mercuri, Eugenio Maria, Franceschi, Francesco, Calabresi, Paolo, Covino, Marcello, Tasca, Giorgio, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido, Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Franceschi, Francesco (ORCID:0000-0001-6266-445X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Covino, Marcello (ORCID:0000-0002-6709-2531)

Abstract

Background and purposeMyopathies are associated with classic signs and symptoms, but also with possible life-threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to assess the presentation, management, and outcomes of clinical manifestations potentially related to a muscle disorder requiring referral to the adult emergency department (ED) and hospitalization.MethodsAnonymized patient data retrieved using the International Classification of Diseases, Ninth Revision codes related to muscle disorders over 4 years were retrospectively analyzed. Medical reports were evaluated to extract demographic and clinical variables, along with outcomes. Two groups were defined based on the presence (known diagnosis [KD] group) or absence (unknown diagnosis [UD] group) of a diagnosed muscle disorder at arrival.ResultsA total of 244 patients were included, 51% of whom were affected by a known myopathy, predominantly limb-girdle muscular dystrophies and myotonic dystrophies. The main reasons for ED visits in the KD group were respiratory issues, worsening of muscle weakness, and gastrointestinal problems. Heart complications were less prevalent. In the UD group, 27 patients received a new diagnosis of a specific primary muscle disorder after the ED access, mostly an inflammatory myopathy. Death during hospitalization was recorded in 26 patients, with a higher rate in the KD group and in patients affected by mitochondrial and inflammatory myopathies. Sepsis and dyspnea were associated with increased death risk.ConclusionsRespiratory complications are the most common reason for myopathic patients accessing the ED, followed by gastrointestinal issues. Infections are severe threats and, once hospitalized, these patients have relatively high mortality.

Published
2024

11. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Ciof, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2023
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12. Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.

Author

Cicchinelli, Michela, Primiano, Guido, Servidei, Serenella, Ardito, Michelangelo, Percio, Anna, Urbani, Andrea, and Iavarone, Federica

Subjects
GENETIC variation, DNA helicases, PHENOTYPIC plasticity, RNA helicase, MITOCHONDRIAL RNA, MITOCHONDRIAL DNA
Abstract

The introduction of new sequencing approaches into clinical practice has radically changed the diagnostic approach to mitochondrial diseases, significantly improving the molecular definition rate in this group of neurogenetic disorders. At the same time, there have been no equal successes in the area of in-depth understanding of disease mechanisms and few innovative therapeutic approaches have been proposed recently. In this regard, the identification of the molecular basis of phenotypic variability in primary mitochondrial disorders represents a key aspect for deciphering disease mechanisms with important therapeutic implications. In this study, we present data from proteomic investigations in two subjects affected by mitochondrial disease characterized by a different clinical severity and associated with the same variant in the TWNK gene, encoding the mitochondrial DNA and RNA helicase with a specific role in the mtDNA replisome. Heterozygous pathogenic variants in this gene are associated with progressive external ophthalmoplegia and ptosis, usually with adult onset. The overall results suggest an imbalance in glucose metabolism and ROS production/regulation, with possible consequences on the phenotypic manifestations of the enrolled subjects. Although the data will need to be validated in a large cohort, proteomic investigations have proven to be a valid approach for a deep understanding of these neurometabolic disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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14. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

Author

Manzoni, Eleonora, primary, Carli, Sara, additional, Gaignard, Pauline, additional, Schlieben, Lea Dewi, additional, Hirano, Michio, additional, Ronchi, Dario, additional, Gonzales, Emmanuel, additional, Shimura, Masaru, additional, Murayama, Kei, additional, Okazaki, Yasushi, additional, Barić, Ivo, additional, Petkovic Ramadza, Danijela, additional, Karall, Daniela, additional, Mayr, Johannes, additional, Martinelli, Diego, additional, La Morgia, Chiara, additional, Primiano, Guido, additional, Santer, René, additional, Servidei, Serenella, additional, Bris, Céline, additional, Cano, Aline, additional, Furlan, Francesca, additional, Gasperini, Serena, additional, Laborde, Nolwenn, additional, Lamperti, Costanza, additional, Lenz, Dominic, additional, Mancuso, Michelangelo, additional, Montano, Vincenzo, additional, Menni, Francesca, additional, Musumeci, Olimpia, additional, Nesbitt, Victoria, additional, Procopio, Elena, additional, Rouzier, Cécile, additional, Staufner, Christian, additional, Taanman, Jan-Willem, additional, Tal, Galit, additional, Ticci, Chiara, additional, Cordelli, Duccio Maria, additional, Carelli, Valerio, additional, Procaccio, Vincent, additional, Prokisch, Holger, additional, and Garone, Caterina, additional

Published
2024
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20. Hospital admissions from the emergency department of adult patients affected by myopathies

Author

Monforte, Mauro, primary, Torchia, Eleonora, additional, Bortolani, Sara, additional, Ravera, Beatrice, additional, Ricci, Enzo, additional, Silvestri, Gabriella, additional, Servidei, Serenella, additional, Primiano, Guido, additional, Mirabella, Massimiliano, additional, Sabatelli, Mario, additional, Mercuri, Eugenio, additional, Franceschi, Francesco, additional, Calabresi, Paolo, additional, Covino, Marcello, additional, and Tasca, Giorgio, additional

Published
2024
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21. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

Author

Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, and Moroni, Isabella

Published
2021
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24. Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

Author

Ticci, Chiara, Sicca, Federico, Ardissone, Anna, Bertini, Enrico, Carelli, Valerio, Diodato, Daria, Di Vito, Lidia, Filosto, Massimiliano, La Morgia, Chiara, Lamperti, Costanza, Martinelli, Diego, Moroni, Isabella, Musumeci, Olimpia, Orsucci, Daniele, Pancheri, Elia, Peverelli, Lorenzo, Primiano, Guido, Rubegni, Anna, Servidei, Serenella, Siciliano, Gabriele, Simoncini, Costanza, Tonin, Paola, Toscano, Antonio, Mancuso, Michelangelo, and Santorelli, Filippo M.

Published
2020
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25. Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases

Author

Cadoni, Gabriella, Primiano, Guido Alessandro, Picciotti, Pasqualina Maria, Calandrelli, Rosalinda, Galli, Jacopo, Servidei, Serenella, Conti, Guido, Cadoni, Gabriella (ORCID:0000-0001-8244-784X), Primiano, Guido, Picciotti, Pasqualina M (ORCID:0000-0002-1502-6508), Galli, Jacopo (ORCID:0000-0001-6353-6249), Servidei, Serenella (ORCID:0000-0001-8478-2799), Conti, Guido (ORCID:0000-0003-2565-4206), Cadoni, Gabriella, Primiano, Guido Alessandro, Picciotti, Pasqualina Maria, Calandrelli, Rosalinda, Galli, Jacopo, Servidei, Serenella, Conti, Guido, Cadoni, Gabriella (ORCID:0000-0001-8244-784X), Primiano, Guido, Picciotti, Pasqualina M (ORCID:0000-0002-1502-6508), Galli, Jacopo (ORCID:0000-0001-6353-6249), Servidei, Serenella (ORCID:0000-0001-8478-2799), and Conti, Guido (ORCID:0000-0003-2565-4206)

Abstract

Mitochondrial diseases (MDs) are heterogeneous genetic disorders characterized by mitochondrial DNA (mtDNA) defects, involving tissues highly dependent on oxidative metabolism: the inner ear, brain, eye, skeletal muscle, and heart. We describe adult patients with genetically defined MDs, characterizing hearing function and neuroimaging results. We enrolled 34 patients (mean age: 50.02 +/- 15 years, range: 18-75 years; 20 females and 14 males) classified in four groups: MELAS, MIDD, PEO, and Encephalopathy/Polyneuropathy. Audiological evaluations included psychoacoustical tests (pure-tone and speech audiometry), electrophysiological tests (Auditory Brainstem Responses, ABRs), and Impedenzometry. Neuroimaging evaluations considered global MRI abnormalities or structural brain changes. In total, 19/34 patients carried the m.3243A > G mutation (6 affected by MELAS, 12 affected by MIDD, and 1 affected by PEO); 11 had an mtDNA deletion (all affected by PEO); 3 had nuclear genes associated with MDs (POLG1 and OPA1); and 1 patient had an mtDNA deletion without an identified nuclear gene defect (affected by PEO). Sensory neural, bilateral, and symmetrical hearing loss was present in 25 patients (73.5%) to different degrees: 9 mild, 9 moderate, 5 severe, and 2 profound. The severe/profound and mild hearing losses were associated with pantonal and high-frequency audiograms, respectively. Instead, moderate hearing losses were associated with both high-frequency (five cases) and pantonal (five cases) audiogram shapes. In addition, 21/25 patients showed a cochlear site of lesion (84%), and 4/25 (16%) showed a retrocochlear site. We found global MRI abnormalities or structural brain changes in 26/30 subjects (86.6%): 21 had white matter abnormalities, 15 had cortical atrophy, 10 had subcortical atrophy, 8 had basal nuclei involvement or cerebellar atrophy, 4 had stroke-like lesions or laminar necrosis, and 1 had cysts or vacuolated lesions. We concluded that genetic alterations

Published
2023

26. Correction to: Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review

Author

Primiano, Guido Alessandro, Rollo, Eleonora, Romozzi, Marina, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello, Primiano, Guido, Calabresi, Paolo (ORCID:0000-0003-0326-5509), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido Alessandro, Rollo, Eleonora, Romozzi, Marina, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello, Primiano, Guido, Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

N/A

Published
2023

27. Inflammatory profile in mitochondrial diseases: A cohort study

Author

Primiano, Guido Alessandro, Plantone, Domenico, Piro, Geny, Carbone, Carmine, Sabino, Andrea, Sancricca, Cristina, Di Nottia, Michela, Carrozzo, Rosalba, Servidei, Serenella, Primiano, Guido, Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido Alessandro, Plantone, Domenico, Piro, Geny, Carbone, Carmine, Sabino, Andrea, Sancricca, Cristina, Di Nottia, Michela, Carrozzo, Rosalba, Servidei, Serenella, Primiano, Guido, and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

This is an observational case–control study performed at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, including subjects with a molecular diagnosis of primary mitochondrial myopathy. Full demographic and clinical data of the MD patients and healthy controls (HCs) are reported in Data S1. Thirty adult patients with a genetically defined MD with predominant involvement of skeletal muscle and 26 age-and sex-matched HCs were included in the studySumming up, our results suggest that inflammation plays a role in primary MDs and may represent an interesting field for future therapeutic perspectives.

Published
2023

29. Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

Author

Cutter, Gary, Aban, Inmaculada, Minisman, Greg, Feese, Michelle, Kuo, Hui-Chien, Newsom-Davis, John, Wolfe, Gil, Kaminski, Henry, Jaretzki, Alfred, Sonett, Joshua, Mazia, Claudio, Saluto, Valeria, Rosenberg, Moises, Alvarez, Valeria, Rey, Lisa, King, John, Butzkueven, Helmut, Goldblatt, John, Carey, John, Pollard, John, Reddel, Stephen, Handel, Nicholas, McCaughan, Brian, Pallot, Linda, Waddington-Cruz, Márcia, Novis, Ricardo, Boasquevisque, Carlos, Dias-Tosta, Elza, Morato-Fernandez, Rubens, Ximenes, Manoel, Werneck, Lineu, Scola, Rosana, Soltoski, Paulo, Chalk, Colin, Moore, Fraser, Mulder, David, Wadup, Lisa, Oger, Joel, Mezei, Michele, Evans, Kenneth, Jiwa, Theresa, Schaffar, Anne, White, Chris, Toth, Cory, Gelfand, Gary, Wood, Susan, Pringle, Elizabeth, Zwicker, Jocelyn, Maziak, Donna, Shamji, Farid, Sundaresan, Sudhir, Seely, Andrew, Cea, Gabriel, Verduga, Renato, Aguayo, Alberto, Jander, Sebastian, Zickler, Philipp, Klein, Michael, Marx, Alexander, Ströbel, Philipp, Weis, Cleo-Aron, Melms, Arthur, Bischof, Felix, Aebert, Hermann, Ziemer, Gerhard, Nix, Wilfred, Thümler, Björn, Wilhem-Schwenkmezger, Thomas, Mayer, Eckhard, Schalke, Berthold, Pöschel, Peter, Hieber, Gisela, Wiebe, Karsten, Antonini, Giovanni, Clemenzi, Alessandro, Ceschin, Vanessa, Rendina, Erino, Venuta, Federico, Morino, Stefania, Bucci, Elisabetta, Durelli, Luca, Tavella, Alessia, Clerico, Marinella, Contessa, Giulia, Borasio, Piero, Evoli, Amelia, Servidei, Serenella, Granone, Pierluigi, Mantegazza, Renato, Berta, Emilia, Novellino, Lorenzo, Spinelli, Luisa, Motomura, Masakatsu, Matsuo, Hidenori, Nagayasu, Takeshi, Yoshikawa, Hiroaki, Takamori, Masaharu, Oda, Makoto, Matsumoto, Isao, Furukawa, Yutaka, Noto, Daisuke, Motozaki, Yuko, Iwasa, Kazuo, Yanase, Daisuke, Garcia Ramos, Guillermo, Cacho, Bernardo, de la Garza, Lorenzo, Kostera-Pruszczyk, Anne, Lipowska, Marta, Kwiecinski, Hubert, Potulska-Chromik, Anna, Orlowski, Tadeusz, Silva, Ana, Feijo, Marta, Freitas, António, Heckmann, Jeannine, Frost, Andrew, Pan, Edward, Tucker, Lawrence, Rossouw, Johan, Drummond, Fiona, Illa, Isabel, Diaz, Jorge, Leon, Carlos, Yeh, Jiann-Horng, Chiu, Hou-Chang, Hsieh, Yei-San, Witoonpanich, Rawiphan, Tunlayadechanont, Supoch, Attanavanich, Sukasom, Verschuuren, Jan, Straathof, Chiara, Titulaer, Maarten, Versteegh, Michel, Pels, Arda, Krum, Yvonne, Buckley, Camilla, Leite, M. Isabel, Vincent, Angela, Hilton-Jones, David, Ratnatunga, Chandi, Farrugia, Maria, Petty, Richard, Overell, James, Kirk, Alan, Gibson, Andrew, McDermott, Chris, Hopkinson, David, Lecky, Bryan, Watling, David, Marshall, Dot, Saminaden, Sam, Davies, Deborah, Dougan, Charlotte, Sathasivam, Siva, Page, Richard, Sussman, Jon, Ealing, John, Krysiak, Peter, Amato, Anthony, Salajegheh, Mohammad, Jaklitsch, Michael, Roe, Kristen, Ashizawa, Tetsuo, Smith, Robert Glenn, Zwischenberg, Joseph, Stanton, Penny, Barboi, Alexandru, Jaradeh, Safwan, Tisol, William, Gasparri, Mario, Haasler, George, Yellick, Mary, Dennis, Cedric, Barohn, Richard, Pasnoor, Mamatha, Dimachkie, Mazen, McVey, April, Gronseth, Gary, Dick, Arthur, Kramer, Jeffrey, Currence, Melissa, Herbelin, Laura, Belsh, Jerry, Li, George, Langenfeld, John, Mertz, Mary Ann, Benatar, Michael, Harrison, Taylor, Force, Seth, Usher, Sharon, Beydoun, Said, Lin, Frank, DeMeester, Steve, Akhter, Salem, Malekniazi, Ali, Avenido, Gina, Crum, Brian, Milone, Margherita, Cassivi, Stephen, Fisher, Janet, Ciafaloni, Emma, Heatwole, Chad, Watson, Thomas, Hilbert, James, Smirnow, Alexis, Distad, B. Jane, Weiss, Michael, Wood, Douglas, Haug, Joanna, Ernstoff, Raina, Cao, Jingyang, Chmielewski, Gary, Welsh, Robert, Duris, Robin, Gutmann, Laurie, Pawar, Gauri, Graeber, Geoffrey Marc, Altemus, Patricia, Nance, Christopher, Gutmann, Ludwig, Jackson, Carlayne, Grogan, Patrick, Calhoon, John, Kittrell, Pamela, Myers, Deborah, Hayat, Ghazala, Naunheim, Keith, Eller, Susan, Holzemer, Eve, Katirji, Bashar, Alshekhlee, Amer, Robke, Jason, Karlinchak, Brenda, Katz, Jonathan, Miller, Robert, Roan, Ralph, Forshew, Dallas, Kissel, John, Elsheikh, Bakri, Ross, Patrick, Chelnick, Sharon, Lewis, Richard, Acsadi, Agnes, Baciewicz, Frank, Masse, Stacey, Massey, Janice, Juel, Vern, Onaitis, Mark, Lowe, James, Lipscomb, Bernadette, Mozaffar, Tahseen, Thai, Gaby, Milliken, Jeffrey, Martin, Veronica, Karayan, Ronnie, Muley, Suraj, Parry, Gareth, Shumway, Sara, Oh, Shin, Claussen, Gwen, Lu, Liang, Cerfolio, Robert, Young, Angela, Morgan, Marla, Pascuzzi, Robert, Kincaid, John, Kesler, Kenneth, Guingrich, Sandy, Michaels, Angi, Phillips, Lawrence, Burns, Ted, Jones, David, Fischer, Cindy, Pulley, Michael, Berger, Alan, D'Agostino, Harry, Smith, Lisa, Rivner, Michael, Pruitt, Jerry, Landolfo, Kevin, Hillman, Demetric, Shaibani, Aziz, Sermas, Angelo, Ruel, Ross, Ismail, Farah, Sivak, Mark, Goldstein, Martin, Camunas, Jorge, Bratton, Joan, Tandan, Rup, Panitch, Hill, Leavitt, Bruce, Jones, Marilee, Muppidi, Srikanth, Vernino, Steven, Nations, Sharon, Meyer, Dan, Gorham, Nina, Wolfe, Gil I, Kaminski, Henry J, Aban, Inmaculada B, Cea, J Gabriel, Heckmann, Jeannine M, King, John O, Beydoun, Said R, Chalk, Colin H, Barboi, Alexandru C, Amato, Anthony A, Shaibani, Aziz I, Lecky, Bryan R F, Pulley, Michael T, Rivner, Michael H, Kostera-Pruszczyk, Anna, Pascuzzi, Robert M, Jackson, Carlayne E, Verschuuren, Jan J G M, Massey, Janice M, Kissel, John T, Werneck, Lineu C, Barohn, Richard J, Silvestri, Nicholas J, Conwit, Robin, Sonett, Joshua R, Jaretzki, Alfred, III, and Cutter, Gary R

Published
2019
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31. Macrophages reside in the muscle spindle to control sensorimotor function at millisecond timescale

Author

Giovanni, Simone Di, primary, Yan, Yuyang, additional, Vargas, Irene, additional, Xu, Luyang, additional, Antolin, Nuria, additional, Kong, Guiping, additional, Palmisano, Ilaria, additional, Yi, Yang, additional, Chadwick, Jessica, additional, Mueller, Franziska, additional, Bull, Anthony, additional, Celso, Cristina Lo, additional, Primiano, Guido, additional, Servidei, Serenella, additional, and Bellardita, Carmelo, additional

Published
2023
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35. Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Author

Nicita, Francesco, Stregapede, Fabrizia, Tessa, Alessandra, Bassi, Maria Teresa, Jezela-Stanek, Aleksandra, Primiano, Guido, Pizzuti, Antonio, Barghigiani, Melissa, Nardella, Marta, Zanni, Ginevra, Servidei, Serenella, Astrea, Guja, Panzeri, Elena, Maghini, Cristina, Losito, Luciana, Ploski, Rafal, Gasperowicz, Piotr, Santorelli, Filippo Maria, Bertini, Enrico, and Travaglini, Lorena

Published
2019
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36. Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Author

Filosto, Massimiliano, Cotti Piccinelli, Stefano, Ravaglia, Sabrina, Servidei, Serenella, Moggio, Maurizio, Musumeci, Olimpia, Donati, Maria Alice, Pegoraro, Elena, Di Muzio, Antonio, Maggi, Lorenzo, Tonin, Paola, Marrosu, Gianni, Sancricca, Cristina, Lerario, Alberto, Sacchini, Michele, Semplicini, Claudio, Bozzoni, Virginia, Telese, Roberta, Bonanno, Silvia, Piras, Rachele, Maioli, Maria Antonietta, Ricci, Giulia, Vercelli, Liliana, Galvagni, Anna, Gallo Cassarino, Serena, Caria, Filomena, Mongini, Tiziana, Siciliano, Gabriele, Padovani, Alessandro, and Toscano, Antonio

Published
2019
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37. Muscle pain in mitochondrial diseases: a picture from the Italian network

Author

Filosto, Massimiliano, Cotti Piccinelli, Stefano, Lamperti, Costanza, Mongini, Tiziana, Servidei, Serenella, Musumeci, Olimpia, Tonin, Paola, Santorelli, Filippo Maria, Simoncini, Costanza, Primiano, Guido, Vercelli, Liliana, Rubegni, Anna, Galvagni, Anna, Moggio, Maurizio, Comi, Giacomo Pietro, Carelli, Valerio, Toscano, Antonio, Padovani, Alessandro, Siciliano, Gabriele, and Mancuso, Michelangelo

Published
2019
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38. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Author

Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, and Horvath, Rita

Published
2020
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39. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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43. Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

Author

Montano, Vincenzo, Gruosso, Francesco, Carelli, Valerio, Comi, Giacomo Pietro, Filosto, Massimiliano, Lamperti, Costanza, Mongini, Tiziana, Musumeci, Olimpia, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Modenese, Angela, Primiano, Guido, Valentino, Maria Lucia, Bortolani, Sara, Marchet, Silvia, Meneri, Megi, Tavilla, Graziana, Siciliano, Gabriele, and Mancuso, Michelangelo

Published
2020
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47. Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis

Author

Singh, Bhagteshwar, Lant, Suzannah, Cividini, Sofia, Cattrall, Jonathan W S, Goodwin, Lynsey C, Benjamin, Laura, Michael, Benedict D, Khawaja, Ayaz, Matos, Aline de Moura Brasil, Alkeridy, Walid, Pilotto, Andrea, Lahiri, Durjoy, Rawlinson, Rebecca, Mhlanga, Sithembinkosi, Lopez, Evelyn C, Sargent, Brendan F, Somasundaran, Anushri, Tamborska, Arina, Webb, Glynn, Younas, Komal, Al Sami, Yaqub, Babu, Heavenna, Banks, Tristan, Cavallieri, Francesco, Cohen, Matthew, Davies, Emma, Dhar, Shalley, Fajardo Modol, Anna, Farooq, Hamzah, Harte, Jeffrey, Hey, Samuel, Joseph, Albert, Karthikappallil, Dileep, Kassahun, Daniel, Lipunga, Gareth, Mason, Rachel, Minton, Thoma, Mond, Gabrielle, Poxon, Joseph, Rabas, Sophie, Soothill, Germander, Zedde, Marialuisa, Yenkoyan, Konstantin, Brew, Bruce, Contini, Erika, Cysique, Lucette, Zhang, Xin, Maggi, Pietro, van Pesch, Vincent, Lechien, Jérome, Saussez, Sven, Heyse, Alex, Brito Ferreira, Maria Lúcia, Soares, Cristiane N, Elicer, Isabel, Eugenín-von Bernhardi, Laura, Ñancupil Reyes, Waleng, Yin, Rong, Azab, Mohammed A, Abd-Allah, Foad, Elkady, Ahmed, Escalard, Simon, Corvol, Jean-Christophe, Delorme, Cécile, Tattevin, Pierre, Bigaut, Kévin, Lorenz, Norbert, Hornuss, Daniel, Hosp, Jona, Rieg, Siegbert, Wagner, Dirk, Knier, Benjamin, Lingor, Paul, Winkler, Andrea Sylvia, Sharifi-Razavi, Athena, Moein, Shima T, Seyedalinaghi, Seyedahmad, Jamalimoghadamsiahkali, Saeidreza, Morassi, Mauro, Padovani, Alessandro, Giunta, Marcello, Libri, Ilenia, Beretta, Simone, Ravaglia, Sabrina, Foschi, Matteo, Calabresi, Paolo, Primiano, Guido Alessandro, Servidei, Serenella, Biagio Mercuri, Nicola, Liguori, Claudio, Pierantozzi, Mariangela, Sarmati, Loredana, Boso, Federica, Garazzino, Silvia, Mariotto, Sara, Patrick, Kimani N, Costache, Oana, Pincherle, Alexander, Klok, Frederikus A, Meza, Roger, Cabreira, Verónica, Valdoleiros, Sofia R, Oliveira, Vanessa, Kaimovsky, Igor, Guekht, Alla, Koh, Jasmine, Fernández Díaz, Eva, Barrios-López, José María, Guijarro-Castro, Cristina, Beltrán-Corbellini, Álvaro, Martínez-Poles, Javier, Diezma-Martín, Alba María, Morales-Casado, Maria Isabel, García García, Sergio, Breville, Gautier, Coen, Matteo, Uginet, Marjolaine, Bernard-Valnet, Raphaël, Du Pasquier, Renaud, Kaya, Yildiz, Abdelnour, Loay H, Rice, Claire, Morrison, Hamish, Defres, Sylviane, Huda, Saif, Enright, Noelle, Hassell, Jane, D'Anna, Lucio, Benger, Matthew, Sztriha, Laszlo, Raith, Eamon, Chinthapalli, Krishna, Nortley, Ro, Paterson, Ro, Chandratheva, Arvind, Werring, David J, Dervisevic, Samir, Harkness, Kirsty, Pinto, Ashwin, Jillella, Dinesh, Beach, Scott, Gunasekaran, Kulothungan, Rocha Ferreira Da Silva, Ivan, Nalleballe, Krishna, Santoro, Jonathan, Scullen, Tyler, Kahn, Lora, Kim, Carla Y, Thakur, Kiran T, Jain, Rajan, Umapathi, Thirugnanam, Nicholson, Timothy R, Sejvar, James J, Hodel, Eva Maria, Tudur Smith, Catrin, Solomon, Tom, Calabresi, Paolo (ORCID:0000-0003-0326-5509), Primiano, Guido, Servidei, Serenella (ORCID:0000-0001-8478-2799), Singh, Bhagteshwar, Lant, Suzannah, Cividini, Sofia, Cattrall, Jonathan W S, Goodwin, Lynsey C, Benjamin, Laura, Michael, Benedict D, Khawaja, Ayaz, Matos, Aline de Moura Brasil, Alkeridy, Walid, Pilotto, Andrea, Lahiri, Durjoy, Rawlinson, Rebecca, Mhlanga, Sithembinkosi, Lopez, Evelyn C, Sargent, Brendan F, Somasundaran, Anushri, Tamborska, Arina, Webb, Glynn, Younas, Komal, Al Sami, Yaqub, Babu, Heavenna, Banks, Tristan, Cavallieri, Francesco, Cohen, Matthew, Davies, Emma, Dhar, Shalley, Fajardo Modol, Anna, Farooq, Hamzah, Harte, Jeffrey, Hey, Samuel, Joseph, Albert, Karthikappallil, Dileep, Kassahun, Daniel, Lipunga, Gareth, Mason, Rachel, Minton, Thoma, Mond, Gabrielle, Poxon, Joseph, Rabas, Sophie, Soothill, Germander, Zedde, Marialuisa, Yenkoyan, Konstantin, Brew, Bruce, Contini, Erika, Cysique, Lucette, Zhang, Xin, Maggi, Pietro, van Pesch, Vincent, Lechien, Jérome, Saussez, Sven, Heyse, Alex, Brito Ferreira, Maria Lúcia, Soares, Cristiane N, Elicer, Isabel, Eugenín-von Bernhardi, Laura, Ñancupil Reyes, Waleng, Yin, Rong, Azab, Mohammed A, Abd-Allah, Foad, Elkady, Ahmed, Escalard, Simon, Corvol, Jean-Christophe, Delorme, Cécile, Tattevin, Pierre, Bigaut, Kévin, Lorenz, Norbert, Hornuss, Daniel, Hosp, Jona, Rieg, Siegbert, Wagner, Dirk, Knier, Benjamin, Lingor, Paul, Winkler, Andrea Sylvia, Sharifi-Razavi, Athena, Moein, Shima T, Seyedalinaghi, Seyedahmad, Jamalimoghadamsiahkali, Saeidreza, Morassi, Mauro, Padovani, Alessandro, Giunta, Marcello, Libri, Ilenia, Beretta, Simone, Ravaglia, Sabrina, Foschi, Matteo, Calabresi, Paolo, Primiano, Guido Alessandro, Servidei, Serenella, Biagio Mercuri, Nicola, Liguori, Claudio, Pierantozzi, Mariangela, Sarmati, Loredana, Boso, Federica, Garazzino, Silvia, Mariotto, Sara, Patrick, Kimani N, Costache, Oana, Pincherle, Alexander, Klok, Frederikus A, Meza, Roger, Cabreira, Verónica, Valdoleiros, Sofia R, Oliveira, Vanessa, Kaimovsky, Igor, Guekht, Alla, Koh, Jasmine, Fernández Díaz, Eva, Barrios-López, José María, Guijarro-Castro, Cristina, Beltrán-Corbellini, Álvaro, Martínez-Poles, Javier, Diezma-Martín, Alba María, Morales-Casado, Maria Isabel, García García, Sergio, Breville, Gautier, Coen, Matteo, Uginet, Marjolaine, Bernard-Valnet, Raphaël, Du Pasquier, Renaud, Kaya, Yildiz, Abdelnour, Loay H, Rice, Claire, Morrison, Hamish, Defres, Sylviane, Huda, Saif, Enright, Noelle, Hassell, Jane, D'Anna, Lucio, Benger, Matthew, Sztriha, Laszlo, Raith, Eamon, Chinthapalli, Krishna, Nortley, Ro, Paterson, Ro, Chandratheva, Arvind, Werring, David J, Dervisevic, Samir, Harkness, Kirsty, Pinto, Ashwin, Jillella, Dinesh, Beach, Scott, Gunasekaran, Kulothungan, Rocha Ferreira Da Silva, Ivan, Nalleballe, Krishna, Santoro, Jonathan, Scullen, Tyler, Kahn, Lora, Kim, Carla Y, Thakur, Kiran T, Jain, Rajan, Umapathi, Thirugnanam, Nicholson, Timothy R, Sejvar, James J, Hodel, Eva Maria, Tudur Smith, Catrin, Solomon, Tom, Calabresi, Paolo (ORCID:0000-0003-0326-5509), Primiano, Guido, and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

BackgroundNeurological COVID-19 disease has been reported widely, but published studies often lack information on neurological outcomes and prognostic risk factors. We aimed to describe the spectrum of neurological disease in hospitalised COVID-19 patients; characterise clinical outcomes; and investigate factors associated with a poor outcome.MethodsWe conducted an individual patient data (IPD) meta-analysis of hospitalised patients with neurological COVID-19 disease, using standard case definitions. We invited authors of studies from the first pandemic wave, plus clinicians in the Global COVID-Neuro Network with unpublished data, to contribute. We analysed features associated with poor outcome (moderate to severe disability or death, 3 to 6 on the modified Rankin Scale) using multivariable models.ResultsWe included 83 studies (31 unpublished) providing IPD for 1979 patients with COVID-19 and acute new-onset neurological disease. Encephalopathy (978 [49%] patients) and cerebrovascular events (506 [26%]) were the most common diagnoses. Respiratory and systemic symptoms preceded neurological features in 93% of patients; one third developed neurological disease after hospital admission. A poor outcome was more common in patients with cerebrovascular events (76% [95% CI 67-82]), than encephalopathy (54% [42-65]). Intensive care use was high (38% [35-41]) overall, and also greater in the cerebrovascular patients. In the cerebrovascular, but not encephalopathic patients, risk factors for poor outcome included breathlessness on admission and elevated D-dimer. Overall, 30-day mortality was 30% [27-32]. The hazard of death was comparatively lower for patients in the WHO European region.InterpretationNeurological COVID-19 disease poses a considerable burden in terms of disease outcomes and use of hospital resources from prolonged intensive care and inpatient admission; preliminary data suggest these may differ according to WHO regions and country income levels. The different

Published
2022

48. Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review

Author

Primiano, Guido Alessandro, Rollo, Eleonora, Romozzi, Marina, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello, Primiano, Guido, Calabresi, Paolo (ORCID:0000-0003-0326-5509), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido Alessandro, Rollo, Eleonora, Romozzi, Marina, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello, Primiano, Guido, Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

Migraine is a common condition in mitochondrial diseases, with a higher prevalence than in the general population. Although several clinical studies support the hypothesis that mitochondrial dysfunction plays a central role in the pathophysiology of migraine, currently there are few data in the literature regarding the efficacy and safety of drugs for the treatment and prophylaxis for this condition in patients with primary mitochondrial disorders. We report a 37-year-old woman affected by mitochondrial disease with progressive external ophthalmoplegia phenotype (PEO) associated with POLG mutation effectively treated with erenumab, in the absence of side effects. Monoclonal antibodies against the calcitonin gene-related peptide (CGRP) or against its receptor are innovative and specific therapies for migraine prophylaxis. This class of drugs is particularly suitable for subjects, such as those suffering from genetically determined mitochondrial dysfunction, in which pharmacological management can represent a challenge due to the nature of these neurogenetic disorders and/or the frequently associated comorbidities.

Published
2022

49. Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases

Author

Primiano, Guido Alessandro, Torraco, Alessandra, Verrigni, Daniela, Sabino, Andrea, Bertini, Enrico Silvio, Carrozzo, Rosalba, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido, Bertini, Enrico, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido Alessandro, Torraco, Alessandra, Verrigni, Daniela, Sabino, Andrea, Bertini, Enrico Silvio, Carrozzo, Rosalba, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido, Bertini, Enrico, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

ObjectivesTopoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in the TOP3A gene have been associated with the Bloom syndrome-like disorder and described in an adult patient with progressive external ophthalmoplegia. The purpose of this report is to expand the clinical phenotype of the TOP3A-related diseases and clarify the role of this gene in primary mitochondrial disorders.MethodsA 44-year-old woman was referred to our hospital because of exercise intolerance and creatine kinase increase. Muscle biopsy and a targeted next-generation sequencing (NGS) analysis were performed.ResultsA histopathologic assessment documented a mitochondrial myopathy, and a molecular analysis revealed a novel homozygous variant in the TOP3A gene associated with multiple mtDNA deletions.DiscussionThis case suggests that TOP3A is one of the several nuclear genes associated with mtDNA maintenance disorder and expands the spectrum of its associated phenotypes, ranging from a clinical condition defined Bloom syndrome-like disorder to canonical mitochondrial syndromes.

Published
2022

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