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393 results on '"Calvo, Andrea"'

1. Prevalence and motor-functional correlates of frontotemporal-spectrum disorders in a large cohort of non-demented ALS patients

Author

Poletti, Barbara, Aiello, Edoardo Nicolò, Consonni, Monica, Iazzolino, Barbara, Torre, Silvia, Solca, Federica, Faltracco, Veronica, Telesca, Alessandra, Palumbo, Francesca, Dalla Bella, Eleonora, Bersano, Enrica, Riva, Nilo, Verde, Federico, Messina, Stefano, Doretti, Alberto, Maranzano, Alessio, Morelli, Claudia, Calvo, Andrea, Silani, Vincenzo, Lauria, Giuseppe, Chiò, Adriano, and Ticozzi, Nicola

Published
2024
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6. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author

Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L, Collins, Ryan L, Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Jerez, Pilar Alvarez, Malik, Laksh, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Masellis, Mario, Keith, Julia, Black, Sandra E, Ferrucci, Luigi, Resnick, Susan M, Tanaka, Toshiko, Soltis, Anthony R, Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa McGrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N, Adeleye, Adelani, Wilkerson, Matthew D, Pollard, Harvey B, Dalgard, Clifton L, Gan-Or, Ziv, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A, Hodges, Angela K, Love, Seth, McKeith, Ian G, Morris, Christopher M, Morris, Huw R, Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J, Troakes, Claire, Barrett, Matthew J, Beach, Thomas G, Bekris, Lynn M, Bennett, David A, Boeve, Bradley F, Dickson, Dennis W, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E, Foroud, Tatiana M, Ghetti, Bernardino, and Gibbs, J Raphael

Subjects
Biological Sciences, Genetics, Brain Disorders, Dementia, ALS, Rare Diseases, Neurodegenerative, Neurosciences, Human Genome, Frontotemporal Dementia (FTD), Alzheimer's Disease, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Aging, Aetiology, 2.1 Biological and endogenous factors, Neurological, American Genome Center, International LBD Genomics Consortium, International ALS/FTD Consortium, PROSPECT Consortium, Lewy body dementia, amyotrophic lateral sclerosis, case-control study, frontotemporal dementia, genome-wide association study, non–Alzheimer's dementia, resource, structural variant
Abstract

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.

Published
2023

8. Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries

Author

Martinelli, Ilaria, Ghezzi, Andrea, Zucchi, Elisabetta, Gianferrari, Giulia, Ferri, Laura, Moglia, Cristina, Manera, Umberto, Solero, Luca, Vasta, Rosario, Canosa, Antonio, Grassano, Maurizio, Brunetti, Maura, Mazzini, Letizia, De Marchi, Fabiola, Simonini, Cecilia, Fini, Nicola, Vinceti, Marco, Pinti, Marcello, Chiò, Adriano, Calvo, Andrea, and Mandrioli, Jessica

Published
2023
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10. Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial

Author

Granit, Volkan, Steele, Julie, Levy, Wendy, Paredes, Maria Elena, Hernandez, Jessica, Bilsker, Martin, Szacka, Katarzyna, Ronert, Adam, Jablońska, Dorota, Łuczak, Alina Zuzanna, Chaverri, Delia, Janse van Mantgem, Mark R, Bunte, Tommy M, Broere, Bianca, de Fockert, Arianne, Sanchez-Tejerina, Daniel, Landabaso, Carmen, Calvo, Andrea, Moglia, Cristina, Manera, Umberto, Canosa, Antonio, Vasta, Rosario, Salamone, Paolina, Fuda, Giuseppe, DeMarco, Giovanni, Casale, Federico, ME Forsberg, Karin, Winroth, Ivar, Almgren Stenberg, Erica, Holmgren, Monica, Amador, Maria del Mar, Lenglet, Timothee, Querin, Giorgia, Coudoin, Sylvie, Pavlakis, Pantelis, Holzberg, Shara, Sideri, Riccardo, Marinou, Kalliopi, Czarnecki, Maciej, Ługiewicz, Renata, Biel-Czarnecka, Marta, Boczkowska, Marcelina, Schotte, Caroline, Vynckier, Jan, Van Daele, Sien, Claeys, Thomas, Delmotte, Koen, Swinnen, Bart, Serrien, Anouk, D'Hondt, Ann, Lamaire, Nikita, Debien, Elisa, Jones, Sarah, Vachon, Chris, Grogan, James, Solorzano, Guillermo, Crowell, Allison, Rakocevic, Goran, Wagoner, Mary, Alma, Osmanovic, Flavia, Wiehler, Sonja, Körner, Olivia, Schreiber-Katz, Camilla, Wohnrade, Anastasia, Sarikidi, Carola, Kassebaum, Chantal, Fischer, Adamo, Ashley, Turcotte, Nicole, Duncan, Jessie, Turner, Ivone, Elman, Lauren, Massie, Rami, Berube, Maxime, Saunders, Natalie, Salmon, Kristiana, Foucher, Juliette, Agessandro, Abrahao, Shirley, Pham, Jahan, Mookshah, Phung, Liane, Statland, Jeffrey, Jawdat, Omar, Dimachkie, Mazen, Pasnoor, Mamatha, Farmakidis, Constantine, Heim, Andrew, Lillig, Katie, Lackey, Alyssa, Weber, Markus, Kurz, Martina, Levine, Todd, Benatar, Michael, Hansen, Thomas, Rom, Dror, Geist, Marie A, Blaettler, Thomas, Camu, William, Kuzma-Kozakiewicz, Magdalena, van den Berg, Leonard H, Morales, Raul Juntas, Chio, Adriano, Andersen, Peter M, Pradat, Pierre-Francois, Lange, Dale, Van Damme, Philip, Mora, Gabriele, Grudniak, Mariusz, Elliott, Matthew, Petri, Susanne, Olney, Nicholas, Ladha, Shafeeq, Goyal, Namita A, Meyer, Thomas, Hanna, Michael G, Quinn, Colin, Genge, Angela, Zinman, Lorne, Jabari, Duaa, Shoesmith, Christen, Ludolph, Albert C, Neuwirth, Christoph, Nations, Sharon, Shefner, Jeremy M, Turner, Martin R, Wuu, Joanne, Bennett, Richard, Dang, Hoang, and Sundgreen, Claus

Published
2024
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11. Impact of Universal Use of the McGrath Videolaryngoscope as a Device for All Intubations in the Cardiac Operating Room. A Prospective Before-After VIDEOLAR-CAR Study

Author

Taboada, Manuel, Estany-Gestal, Ana, Rial, María, Cariñena, Agustín, Martínez, Adrián, Selas, Salomé, Eiras, María, Veiras, Sonia, Ferreiroa, Esteban, Cardalda, Borja, López, Carmen, Calvo, Andrea, Fernández, Jorge, Álvarez, Julián, Alcántara, Jorge Miguel, and Seoane-Pillado, Teresa

Published
2024
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12. Construction and Evaluation of a Realistic Low-Cost Model for Training in Chest-Tube Insertion

Author

López-Baamonde, Manuel, Perdomo, Juan Manuel, Ibáñez, Cristina, Angelès-Fité, Gerard, Magaldi, Marta, Panzeri, Miriam Fiore, Bergé, Raquel, Gómez-López, Lidia, Guirao Montes, Ángela, Gomar-Sancho, Carmen, Belda, Isabel, Bergé, Raquel, Carramiñana, Albert, Calvo, Andrea, Cuñat, Tomás, Gomar-Sancho, Carmen, Gómez, Lidia, Ibáñez, Cristina, Jacas, Adriana, López-Baamonde, Manuel, Magaldi, Marta, Panzeri, Miriam Fiore, Perdomo, Juan, and Tena, Beatriz

Published
2024
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13. Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.

Author

Kaivola, Karri, Shah, Zalak, Chia, Ruth, Black, Sandra E, Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A, Hodges, Angela K, Love, Seth, McKeith, Ian G, Morris, Christopher M, Morris, Huw R, Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J, Troakes, Claire, Albert, Marilyn S, Barrett, Matthew J, Beach, Thomas G, Bekris, Lynn M, Bennett, David A, Boeve, Bradley F, Dalgard, Clifton L, Dawson, Ted M, Dickson, Dennis W, Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E, Foroud, Tatiana M, Ghetti, Bernardino, Gibbs, J Raphael, Goate, Alison, Goldstein, David S, Graff-Radford, Neill R, Kaufmann, Horacio, Kukull, Walter A, Leverenz, James B, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L, Palma, Jose Alberto, Pletnikova, Olga, Renton, Alan E, Resnick, Susan M, Rosenthal, Liana S, Ross, Owen A, Scherzer, Clemens R, Serrano, Geidy E, Shakkottai, Vikram G, Sidransky, Ellen, Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Troncoso, Juan C, Woltjer, Randy, Wszolek, Zbigniew K, and Scholz, Sonja W

Subjects
Genetics, Lewy Body Dementia, Neurodegenerative, Aging, Brain Disorders, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, Alzheimer's Disease, Acquired Cognitive Impairment, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Aged, Alzheimer Disease, Apolipoprotein E4, Genome-Wide Association Study, Humans, Lewy Body Disease, alpha-Synuclein, International LBD Genomics Consortium, APOE, Alzheimer’s disease, co-pathology, dementia with Lewy bodies, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The APOE locus is strongly associated with risk for developing Alzheimer's disease and dementia with Lewy bodies. In particular, the role of the APOE ε4 allele as a putative driver of α-synuclein pathology is a topic of intense debate. Here, we performed a comprehensive evaluation in 2466 dementia with Lewy bodies cases versus 2928 neurologically healthy, aged controls. Using an APOE-stratified genome-wide association study approach, we found that GBA is associated with risk for dementia with Lewy bodies in patients without APOE ε4 (P = 6.58 × 10-9, OR = 3.41, 95% CI = 2.25-5.17), but not with dementia with Lewy bodies with APOE ε4 (P = 0.034, OR = 1.87, 95%, 95% CI = 1.05-3.37). We then divided 495 neuropathologically examined dementia with Lewy bodies cases into three groups based on the extent of concomitant Alzheimer's disease co-pathology: pure dementia with Lewy bodies (n = 88), dementia with Lewy bodies with intermediate Alzheimer's disease co-pathology (n = 66) and dementia with Lewy bodies with high Alzheimer's disease co-pathology (n = 341). In each group, we tested the association of the APOE ε4 against the 2928 neurologically healthy controls. Our examination found that APOE ε4 was associated with dementia with Lewy bodies + Alzheimer's disease (P = 1.29 × 10-32, OR = 4.25, 95% CI = 3.35-5.39) and dementia with Lewy bodies + intermediate Alzheimer's disease (P = 0.0011, OR = 2.31, 95% CI = 1.40-3.83), but not with pure dementia with Lewy bodies (P = 0.31, OR = 0.75, 95% CI = 0.43-1.30). In conclusion, although deep clinical data were not available for these samples, our findings do not support the notion that APOE ε4 is an independent driver of α-synuclein pathology in pure dementia with Lewy bodies, but rather implicate GBA as the main risk gene for the pure dementia with Lewy bodies subgroup.

Published
2022

14. Randomized, double-blind, placebo-controlled trial of rapamycin in amyotrophic lateral sclerosis

Author

Mandrioli, Jessica, D’Amico, Roberto, Zucchi, Elisabetta, De Biasi, Sara, Banchelli, Federico, Martinelli, Ilaria, Simonini, Cecilia, Lo Tartaro, Domenico, Vicini, Roberto, Fini, Nicola, Gianferrari, Giulia, Pinti, Marcello, Lunetta, Christian, Gerardi, Francesca, Tarlarini, Claudia, Mazzini, Letizia, De Marchi, Fabiola, Scognamiglio, Ada, Sorarù, Gianni, Fortuna, Andrea, Lauria, Giuseppe, Bella, Eleonora Dalla, Caponnetto, Claudia, Meo, Giuseppe, Chio, Adriano, Calvo, Andrea, and Cossarizza, Andrea

Published
2023
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15. Control of a hippocampal recurrent excitatory circuit by cannabinoid receptor-interacting protein Gap43

Author

Maroto, Irene B., Costas-Insua, Carlos, Berthoux, Coralie, Moreno, Estefanía, Ruiz-Calvo, Andrea, Montero-Fernández, Carlos, Macías-Camero, Andrea, Martín, Ricardo, García-Font, Nuria, Sánchez-Prieto, José, Marsicano, Giovanni, Bellocchio, Luigi, Canela, Enric I., Casadó, Vicent, Galve-Roperh, Ismael, Núñez, Ángel, Fernández de Sevilla, David, Rodríguez-Crespo, Ignacio, Castillo, Pablo E., and Guzmán, Manuel

Published
2023
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17. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia

Subjects
Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Prevention, ALS, Neurosciences, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Brain, Cholesterol, Disease Progression, Female, Genome-Wide Association Study, Glutamine, Humans, Male, Mendelian Randomization Analysis, Microsatellite Repeats, Mutation, Neurodegenerative Diseases, Neurons, Quantitative Trait Loci, RNA-Seq, Risk Factors, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.

Published
2021

20. Factors predicting disease progression in C9ORF72 ALS patients

Author

Mandrioli, Jessica, Zucchi, Elisabetta, Martinelli, Ilaria, Van der Most, Laura, Gianferrari, Giulia, Moglia, Cristina, Manera, Umberto, Solero, Luca, Vasta, Rosario, Canosa, Antonio, Grassano, Maurizio, Brunetti, Maura, Mazzini, Letizia, De Marchi, Fabiola, Simonini, Cecilia, Fini, Nicola, Tupler, Rossella, Vinceti, Marco, Chiò, Adriano, and Calvo, Andrea

Published
2023
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22. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author

Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Dalgard, Clifton L., Black, Sandra E., Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A., Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Morris, Huw R., Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J., Troakes, Claire, Albert, Marilyn S., Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Boeve, Bradley F., Dawson, Ted M., Dickson, Dennis W., Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E., Foroud, Tatiana M., Ghetti, Bernardino, Gibbs, J. Raphael, Goate, Alison, Goldstein, David S., Graff-Radford, Neill R., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Pletnikova, Olga, Renton, Alan E., Resnick, Susan M., Rosenthal, Liana S., Ross, Owen A., Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram G., Sidransky, Ellen, Tanaka, Toshiko, Tayebi, Nahid, Topol, Eric, Torkamani, Ali, Troncoso, Juan C., Woltjer, Randy, Wszolek, Zbigniew K., Scholz, Sonja W., Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J.L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Tienari, Pentti, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, and De Jager, Philip L.

Published
2023
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23. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Author

Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M, van den Berg, Leonard H., Veldink, Jan H., and van Es, Michael A.

Published
2023
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26. Disentangling the relationship between social cognition, executive functions and behaviour changes in amyotrophic lateral sclerosis

Author

Palumbo, Francesca, primary, Iazzolino, Barbara, additional, Callegaro, Stefano, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Vasta, Rosario, additional, Grassano, Maurizio, additional, Matteoni, Enrico, additional, Cabras, Sara, additional, Pellegrino, Giorgio, additional, Salamone, Paolina, additional, Peotta, Laura, additional, Casale, Federico, additional, Fuda, Giuseppe, additional, Moglia, Cristina, additional, Chio, Adriano, additional, and Calvo, Andrea, additional

Published
2024
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27. Use of the combination of spirometry, arterial blood gas analysis and overnight oximetry to predict the outcomes of patients affected by motor neuron disease: The Milan‐Torin respiratory score (Mi‐To‐RS)

Author

Schito, Paride, primary, Manera, Umberto, additional, Russo, Tommaso, additional, Cremona, George, additional, Riboldi, Elisa, additional, Tettamanti, Andrea, additional, Agosta, Federica, additional, Quattrini, Angelo, additional, Chiò, Adriano, additional, Filippi, Massimo, additional, Calvo, Andrea, additional, and Riva, Nilo, additional

Published
2024
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28. High Frequency of Cognitive and Behavioural Impairment in ALS Patients with SOD1 Pathogenic Variants (P5-11.004)

Author

Chio, Adriano, primary, Calvo, Andrea, additional, Moglia, Cristina, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Vasta, Rosario, additional, Grassano, Maurizio, additional, Daviddi, Margherita, additional, Matteoni, Enrico, additional, Brunetti, Maura, additional, Cabras, Sara, additional, Palumbo, Francesca, additional, Mora, Gabriele, additional, and Iazzolino, Barbara, additional

Published
2024
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29. Sex-related Differences in ALS Survival and Progression: Insights from a Population-based Study (P6-11.004)

Author

Grassano, Maurizio, primary, Palumbo, Francesca, additional, Moglia, Cristina, additional, Salamone, Paolina, additional, Fuda, Giuseppe, additional, Vasta, Rosario, additional, Manera, Umberto, additional, Canosa, Antonio, additional, Casale, Federico, additional, Mazzini, Letizia, additional, Calvo, Andrea, additional, and Chio, Adriano, additional

Published
2024
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30. Association of Intermediate HTT CAG Repeats with Increased Risk and Disease Severity in Amyotrophic Lateral Sclerosis (P5-11.003)

Author

Grassano, Maurizio, primary, Canosa, Antonio, additional, Corrado, Lucia, additional, D’Alfonso, Sandra, additional, Manera, Umberto, additional, Vasta, Rosario, additional, Koumantakis, Emanuele, additional, Brodini, Giorgia, additional, Palumbo, Francesca, additional, Moglia, Cristina, additional, Chia, Ruth, additional, Mazzini, Letizia, additional, Calvo, Andrea, additional, Scholz, Sonja, additional, Traynor, Bryan, additional, and Chio, Adriano, additional

Published
2024
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31. Disentangling the Relationship Between Social Cognition, Executive Functions, and Behaviour Changes in Amyotrophic Lateral Sclerosis (S18.009)

Author

Palumbo, Francesca, primary, Iazzolino, Barbara, additional, Callegaro, Stefano, additional, Canosa, Antonio, additional, Vasta, Rosario, additional, Grassano, Maurizio, additional, Matteoni, Enrico, additional, Cabras, Sara, additional, Pellegrino, Giorgio, additional, Salamone, Paolina, additional, Casale, Federico, additional, Fuda, Giuseppe, additional, Moglia, Cristina, additional, Calvo, Andrea, additional, and Chio, Adriano, additional

Published
2024
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32. High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants

Author

Calvo, Andrea, primary, Moglia, Cristina, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Vasta, Rosario, additional, Grassano, Maurizio, additional, Daviddi, Margherita, additional, De Mattei, Filippo, additional, Matteoni, Enrico, additional, Gallone, Salvatore, additional, Brunetti, Maura, additional, Sbaiz, Luca, additional, Cabras, Sara, additional, Peotta, Laura, additional, Palumbo, Francesca, additional, Iazzolino, Barbara, additional, Mora, Gabriele, additional, and Chiò, Adriano, additional

Published
2024
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33. Sex Differences in Amyotrophic Lateral Sclerosis Survival and Progression: A Multidimensional Analysis

Author

Grassano, Maurizio, primary, Moglia, Cristina, additional, Palumbo, Francesca, additional, Koumantakis, Emanuele, additional, Cugnasco, Paolo, additional, Callegaro, Stefano, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Vasta, Rosario, additional, De Mattei, Filippo, additional, Matteoni, Enrico, additional, Fuda, Giuseppe, additional, Salamone, Paolina, additional, Marchese, Giulia, additional, Casale, Federico, additional, De Marchi, Fabiola, additional, Mazzini, Letizia, additional, Mora, Gabriele, additional, Calvo, Andrea, additional, and Chiò, Adriano, additional

Published
2024
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35. Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study

Author

Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Palumbo, Francesca, Bombaci, Alessandro, Grassano, Maurizio, Brunetti, Maura, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, D'Alfonso, Sandra, Bertolotto, Antonio, Imperiale, Daniele, De Mattei, Marco, Amarù, Salvatore, Comi, Cristoforo, Labate, Carmelo, Poglio, Fabio, Ruiz, Luigi, Testa, Lucia, Rota, Eugenia, Ghiglione, Paolo, Launaro, Nicola, Di Sapio, Alessia, Mandrioli, Jessica, Fini, Nicola, Martinelli, Ilaria, Zucchi, Elisabetta, Gianferrari, Giulia, Simonini, Cecilia, Meletti, Stefano, Liguori, Rocco, Vacchiano, Veria, Salvi, Fabrizio, Bartolomei, Ilaria, Michelucci, Roberto, Cortelli, Pietro, Rinaldi, Rita, Borghi, Anna Maria, Zini, Andrea, Sette, Elisabetta, Tugnoli, Valeria, Pugliatti, Maura, Canali, Elena, Codeluppi, Luca, Valzania, Franco, Zinno, Lucia, Pavesi, Giovanni, Medici, Doriana, Pilurzi, Giovanna, Terlizzi, Emilio, Guidetti, Donata, De Pasqua, Silvia, Santangelo, Mario, De Massis, Patrizia, Bracaglia, Martina, Casmiro, Mario, Querzani, Pietro, Morresi, Simonetta, Longoni, Marco, Patuelli, Alberto, Malagù, Susanna, Currò Dossi, Marco, Vidale, Simone, Ferro, Salvatore, Faghri, Faraz, Brunn, Fabian, Dadu, Anant, Nalls, Michael A, Campbell, Roy H, and Traynor, Bryan J

Published
2022
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40. Hereditary motor sensory neuropathy with proximal involvement (HMSN‐P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease‐like clinical picture

Author

Cabras, Sara, primary, Di Pede, Francesca, additional, Canosa, Antonio, additional, Grassano, Maurizio, additional, Mongini, Tiziana Enrica, additional, Gadaleta, Giulio, additional, Calvo, Andrea, additional, Chiò, Adriano, additional, Moglia, Cristina, additional, and Gallone, Salvatore, additional

Published
2024
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41. Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers

Author

Nigri, Anna, primary, Stanziano, Mario, additional, Fedeli, Davide, additional, Manera, Umberto, additional, Ferraro, Stefania, additional, Medina Carrion, Jean Paul, additional, Palermo, Sara, additional, Lequio, Laura, additional, Denegri, Federica, additional, Agosta, Federica, additional, Spinelli, Edoardo Gioele, additional, Filippi, Massimo, additional, Grisoli, Marina, additional, Valentini, Maria Consuelo, additional, De Mattei, Filippo, additional, Canosa, Antonio, additional, Calvo, Andrea, additional, Chiò, Adriano, additional, Bruzzone, Maria Grazia, additional, and Moglia, Cristina, additional

Published
2024
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42. Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant

Author

Moglia, Cristina, primary, Calvo, Andrea, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Vasta, Rosario, additional, Di Pede, Francesca, additional, Daviddi, Margherita, additional, Matteoni, Enrico, additional, Brunetti, Maura, additional, Sbaiz, Luca, additional, Cabras, Sara, additional, Gallone, Salvatore, additional, Grassano, Maurizio, additional, Peotta, Laura, additional, Palumbo, Francesca, additional, Mora, Gabriele, additional, Iazzolino, Barbara, additional, and Chio, Adriano, additional

Published
2024
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43. Calculated Maximal Volume Ventilation (cMVV) as a Marker of Early Respiratory Failure in Amyotrophic Lateral Sclerosis (ALS)

Author

Manera, Umberto, primary, Torrieri, Maria Claudia, additional, Moglia, Cristina, additional, Canosa, Antonio, additional, Vasta, Rosario, additional, Palumbo, Francesca, additional, Matteoni, Enrico, additional, Cabras, Sara, additional, Grassano, Maurizio, additional, Bombaci, Alessandro, additional, Mattei, Alessio, additional, Bellocchia, Michela, additional, Tabbia, Giuseppe, additional, Ribolla, Fulvia, additional, Chiò, Adriano, additional, and Calvo, Andrea, additional

Published
2024
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44. Resting‐state fMRI functional connectome of C9orf72 mutation status

Author

Stanziano, Mario, primary, Fedeli, Davide, additional, Manera, Umberto, additional, Ferraro, Stefania, additional, Medina Carrion, Jean P., additional, Palermo, Sara, additional, Sciortino, Paola, additional, Cogoni, Maurizio, additional, Agosta, Federica, additional, Basaia, Silvia, additional, Filippi, Massimo, additional, Grisoli, Marina, additional, Valentini, Maria C., additional, De Mattei, Filippo, additional, Canosa, Antonio, additional, Calvo, Andrea, additional, Bruzzone, Maria G., additional, Chiò, Adriano, additional, Nigri, Anna, additional, and Moglia, Cristina, additional

Published
2024
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46. Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis

Author

Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Manera, Umberto, Grassano, Maurizio, Vasta, Rosario, Palumbo, Francesca, Cugnasco, Paolo, Gallone, Salvatore, Brunetti, Maura, De Marchi, Fabiola, Arena, Vincenzo, Pagani, Marco, Dalgard, Clifton, Scholz, Sonja W., Chia, Ruth, Corrado, Lucia, Dalfonso, Sandra, Mazzini, Letizia, Traynor, Bryan J., and Chio, Adriano

Published
2022
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48. Emotion Processing in Peripheral Neuropathic Pain: An Observational Study.

Author

Isoardo, Gianluca, Adenzato, Mauro, Ciullo, Stefano, Fontana, Elena, Stura, Ilaria, Migliaretti, Giuseppe, Titolo, Paolo, Matteoni, Enrico, Calvo, Andrea, Laino, Federica, Palumbo, Francesca, and Ardito, Rita B.

Subjects
FACIAL expression & emotions (Psychology), EMOTION recognition, NEURALGIA, ALEXITHYMIA, EMOTIONS, SCIENTIFIC observation, NERVE conduction studies
Abstract

Background: In clinical practice, the implementation of tailored treatment is crucial for assessing the patient's emotional processing profile. Here, we investigate all three levels of analysis characterizing emotion processing, i.e., recognition, representation, and regulation, in patients with peripheral neuropathic pain (PNP). Methods: Sixty-two patients and forty-eight healthy controls underwent quantitative sensory testing, i.e., psychophysical tests to assess somatosensory functions such as perception of cold (CDT), heat-induced pain (HPT), and vibration (VDT), as well as three standardized tasks to assess emotional processing: (1) the Ekman 60-Faces Test (EK-60F) to assess recognition of basic facial emotions, (2) the Reading the Mind in the Eyes Test (RME) to assess the ability to represent the feelings of another person by observing their eyes, and (3) the 20-item Toronto Alexithymia Scale (TAS-20) to assess emotional dysregulation, i.e., alexithymia. Results: General Linear Model analysis revealed a significant relationship between left index finger VDT z-scores in PNP patients with alexithymia. The RME correlated with VDT z-scores of the left little finger and overall score for the EK-60F. Conclusions: In patients with PNP, emotion processing is impaired, which emphasizes the importance of assessing these abilities appropriately in these patients. In this way, clinicians can tailor treatment to the needs of individual patients. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Giving Breath to Motor Neurons: Noninvasive Mechanical Ventilation Slows Disease Progression in Amyotrophic Lateral Sclerosis.

Author

Grassano, Maurizio, Koumantakis, Emanuele, Manera, Umberto, Canosa, Antonio, Vasta, Rosario, Palumbo, Francesca, Fuda, Giuseppe, Salamone, Paolina, Marchese, Giulia, Casale, Federico, Charrier, Lorena, Mora, Gabriele, Moglia, Cristina, Calvo, Andrea, and Chiò, Adriano

Subjects
AMYOTROPHIC lateral sclerosis, NONINVASIVE ventilation, MOTOR neurons, DISEASE progression, ARTIFICIAL respiration
Abstract

Objective: Noninvasive mechanical ventilation (NIMV) improves amyotrophic lateral sclerosis (ALS) quality of life and survival. However, data about its effect on disease progression are still lacking. Here, we test whether NIMV use changed the rate of functional decline among ALS patients. Methods: In this retrospective observational study, we included 448 ALS patients followed up at the ALS Center in Turin, Italy, who underwent NIMV during the disease course. The primary outcome was the change in functional decline after NIMV initiation adjusting for covariates. Functional decline was based on the nonrespiratory items of the Amyotrophic Lateral Sclerosis Functional Rating Scale–Revised (ALSFRS‐R). Results: NIMV initiation resulted in a slower functional decline (mean improvement = 0.16 points per month, 95% confidence interval = 0.12–0.19, p < 0.001), with consistent effects observed across various demographic factors, including sex, age at diagnosis, and disease duration before NIMV initiation. This finding was replicated using the PRO‐ACT (Pooled Resource Open‐Access ALS Clinical Trials) dataset. The favorable impact of NIMV on ALSFRS‐R progression was evident independently of disease stages. Notably, NIMV benefits were not dose‐dependent but were particularly prominent for nighttime respiratory support. Interpretation: NIMV significantly influences the rate of motor progression in ALS, and this effect is not determined by the nonlinearity of ALSFRS‐R trajectory. The functional decline slowed following NIMV initiation, independently of the site of disease onset or disease severity at the time of NIMV initiation. Our findings underscore the importance of timely NIMV initiation for all ALS patients and highlight the need to consider NIMV‐induced slowing of disease progression when evaluating clinical trial outcomes. ANN NEUROL 2024;95:817–822 [ABSTRACT FROM AUTHOR]

Published
2024
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50. A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.

Author

Canosa, Antonio, Cabras, Sara, Di Pede, Francesca, Manera, Umberto, Vasta, Rosario, Moglia, Cristina, Calvo, Andrea, Gallone, Salvatore, and Chiò, Adriano

Subjects
HUNTINGTON disease, MOTOR neuron diseases, AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL dementia, NEURODEGENERATION
Abstract

Recently, pathogenic expansions (range 40–64 CAG repeats) in the HTT gene have been found in patients diagnosed with pure frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). We report a mother with Huntington's disease (HD) associated with motor neuron disease (MND) signs and her daughter suffering from ALS with subtle signs of HD, both carrying a pathogenic allele of the HTT gene (i.e., >39 repeats). The co‐occurrence of MND and chorea has been reported in previous cases. Subjects showing both ALS and HD signs and carrying HTT pathogenic expansions in two generations of the same kindred have never been reported so far. The study of the overlap of disease mechanisms at the cellular level between TDP‐43 and Huntingtin is relevant in an era offering promising strategies of targeted treatments in neurodegenerative disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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