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13 p, 1.2 MB |
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
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Blasco-Pérez, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Costa-Roger, Mar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Leno Colorado, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ;
Alías, Laura (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Codina Solà, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martínez-Cruz, Desirée (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castiglioni, Claudia (Departamento de Neurología Pediátrica. Clínica Las Condes) ;
Bertini, Enrico (Unit of Neuromuscular and Neurodegenerative Disease. Ospedale Pediatrico Bambino Gesu. IRCCS) ;
Travaglini, Lorena (Unit of Neuromuscular and Neurodegenerative Disease. Ospedale Pediatrico Bambino Gesu. IRCCS) ;
Millán, José (Instituto de Investigación Sanitaria La Fe) ;
Aller, Elena (Instituto de Investigación Sanitaria La Fe) ;
Sotoca Fernández, Javier (Hospital Universitari Vall d'Hebron) ;
Juntas, Raúl (Hospital Universitari Vall d'Hebron) ;
Hoei-Hansen, Christina Engel (University of Copenhagen. Department of Clinical Medicine) ;
Moreno-Escribano, Antonio (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Guillén-Navarro, E. (Clínico Universitario Virgen de la Arrixaca. IMIB-Arrixaca. Universidad de Murcia) ;
Costa-Comellas, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Boronat, Susanna (Institut d'Investigació Biomèdica Sant Pau) ;
Rojas-García, Ricardo (Institut d'Investigació Biomèdica Sant Pau) ;
Povedano, Mónica (Unidad Funcional de Enfermedad de Motoneurona. Servicio de Neurología. Hospital Universitario de Bellvitge) ;
Cusco, Ivon (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Tizzano, Eduardo F. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to influence the amount of complete SMN proteins. [...]
2022 -  10.3390/ijms23158289
International journal of molecular sciences, Vol. 23 Núm. 15 (august 2022) , p. 8289
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Author Correction : Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter (Utrecht University) ;
van der Spek, Rick A. A. (Utrecht University) ;
Bakker, Mark K. (Utrecht University) ;
van Vugt, Joke J. F. A. (Utrecht University) ;
Hop, Paul J. (Utrecht University) ;
Zwamborn, Ramona A. J. (Utrecht University) ;
de Klein, Niek (University Medical Centre Groningen) ;
Westra, Harm-Jan (University Medical Centre Groningen) ;
Bakker, Olivier B. (University Medical Centre Groningen) ;
Deelen, Patrick (Utrecht University) ;
Shireby, Gemma (University of Exeter) ;
Hannon, Eilis (University of Exeter) ;
Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ;
Baird, Denis (University of Bristol) ;
Restuadi, Restuadi (University of Queensland) ;
Dolzhenko, Egor (Illumina) ;
Dekker, Annelot M. (Utrecht University) ;
Gawor, Klara (Utrecht University) ;
Westeneng, Henk-Jan (Utrecht University) ;
Tazelaar, Gijs H. P. (Utrecht University) ;
van Eijk, Kristel R. (Utrecht University) ;
Kooyman, Maarten (Utrecht University) ;
Byrne, Ross P. (Trinity College Dublin) ;
Doherty, Mark (Trinity College Dublin) ;
Heverin, Mark (Trinity College Dublin) ;
Al Khleifat, Ahmad (King's College LondonNeuroscience Institute) ;
Iacoangeli, Alfredo (King's College London) ;
Shatunov, Aleksey (King's College London) ;
Ticozzi, Nicola (Università degli Studi di Milano) ;
Cooper-Knock, Johnathan (University of Sheffield) ;
Smith, Bradley N. (King's College London) ;
Gromicho, Marta (Universidade de Lisboa) ;
Chandran, Siddharthan (University of Edinburgh. UK Dementia Research Institute) ;
Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ;
Morrison, Karen E. (Queen's University Belfast) ;
Shaw, Pamela J. (University of Sheffield) ;
Hardy, John (University College London) ;
Orrell, Richard W. (University College London) ;
Sendtner, Michael (University Hospital Würzburg) ;
Meyer, Thomas (Humboldt University) ;
Başak, Nazli (Koç University, School of Medicine, KUTTAM-NDAL) ;
van der Kooi, Anneke J. (Academic Medical Center) ;
Ratti, Antonia (Università degli Studi di Milano) ;
Fogh, Isabella (King's College London) ;
Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ;
Lauria, Giuseppe (University of Milan) ;
Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ;
Cereda, Cristina (IRCCS Mondino Foundation) ;
Sproviero, Daisy (IRCCS Mondino Foundation) ;
D'Alfonso, Sandra (University of Eastern Piedmont) ;
Sorarù, Gianni (University of Padova) ;
Siciliano, Gabriele (University of Pisa) ;
Filosto, Massimiliano (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Brunetti, Maura (University of Torino) ;
Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Grassano, Maurizio (University of Torino) ;
Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G. Panico' Hospital. Department of Clinical Research in Neurology) ;
Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ;
Osmanovic, Alma (University Hospital Essen (Alemanya)) ;
Nordin, Angelica (Umeå University) ;
Lerner, Yossef (Hadassah Medical Center) ;
Zabari, Michal (Hadassah Medical Center) ;
Gotkine, Marc (Hadassah Medical Center) ;
Baloh, Robert H. (Cedars-Sinai Medical Center) ;
Bell, Shaughn (Cedars-Sinai Medical Center) ;
Vourc'h, Patrick (UMR 1253, Université de Tours) ;
Corcia, Philippe (CHU de Tours. Centre de référence sur la SLA) ;
Couratier, Philippe (Université de Limoges) ;
Millecamps, Stéphanie (Sorbonne Université) ;
Meininger, Vincent (Hôpital des Peupliers) ;
Salachas, François (Hôpital de la Pitié-Salpêtrière) ;
Mora Pardina, Jesus S. (ALS Unit, Hospital San Rafael, Madrid) ;
Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Dion, Patrick A. (McGill University) ;
Ross, Jay P. (McGill University) ;
Ludolph, Albert C. (Ulm University) ;
Weishaupt, Jochen H. (Heidelberg University) ;
Brenner, David (Heidelberg University) ;
Freischmidt, Axel (German Center for Neurodegenerative Diseases) ;
Bensimon, Gilbert (CHU-Nîmes) ;
Brice, Alexis (Sorbonne Université) ;
Durr, Alexandra (Sorbonne Université) ;
Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ;
Saker-Delye, Safa (Genethon, CNRS UMR) ;
Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ;
Topp, Simon (King's College London.) ;
Rademakers, Rosa (Mayo Clinic College of Medicine) ;
Tittmann, Lukas (Christian Albrechts-University Kiel) ;
Lieb, Wolfgang (Christian Albrechts-University Kiel) ;
Franke, Andre (Kiel University) ;
Ripke, Stephan (Charité - Universitätsmedizin Berlin) ;
Braun, Alice (Charité - Universitätsmedizin Berlin) ;
Kraft, Julia (Charité - Universitätsmedizin Berlin) ;
Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ;
Hofman, Albert (Erasmus Medical Center Rotterdam. Department of Epidemiology) ;
Rietschel, Marcella (Central Institute of Mental Health) ;
Cichon, Sven (Institute of Neuroscience and Medicine INM-1) ;
Nöthen, Markus M. (Life and Brain Center. Department of Genomics) ;
Amouyel, Philippe (University of Lille) ;
Traynor, Bryan J. (Johns Hopkins University) ;
Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ;
Mitne Neto, Miguel (Universidade de São Paulo) ;
Cauchi, Ruben J. (University of Malta) ;
Ophoff, Roel A. (University of California) ;
Wiedau-Pazos, Martina (University of California) ;
Lomen-Hoerth, Catherine (University of California. Department of Neurology) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Grosskreutz, Julian (University of Luebeck) ;
Roediger, Annekathrin (Jena University Hospital (Alemanya)) ;
Gaur, Nayana (Jena University Hospital (Alemanya)) ;
Jörk, Alexander (Jena University Hospital (Alemanya)) ;
Barthel, Tabea (Jena University Hospital (Alemanya)) ;
Theele, Erik (Jena University Hospital (Alemanya)) ;
Ilse, Benjamin (Jena University Hospital (Alemanya)) ;
Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ;
Witte, Otto W. (Jena University Hospital (Alemanya)) ;
Steinbach, Robert (Jena University Hospital (Alemanya)) ;
Hübner, Christian A. (Jena University Hospital (Alemanya)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences. Department of Functional Biochemistry of the Nervous System) ;
Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ;
Demeshonok, Vera (Medical Clinic of the St. Petersburg) ;
Ataulina, Anastasia (Bujanov Moscow Clinical Hospital, Moscow, Russia) ;
Rogelj, Boris (University of Ljubljana) ;
Koritnik, Blaž (University Medical Centre Ljubljana) ;
Zidar, Janez (University Medical Centre Ljubljana) ;
Ravnik-Glavač, Metka (University of Ljubljana) ;
Glavač, Damjan (University of Ljubljana) ;
Stević, Zorica (University of Belgrade) ;
Drory, Vivian (Tel Aviv University) ;
Povedano, Monica (Hospital Universitari de Bellvitge) ;
Blair, Ian P. (Macquarie University) ;
Kiernan, Matthew C. (University of Sydney) ;
Benyamin, Beben (University of South Australia) ;
Henderson, Robert D. (Royal Brisbane and Women's Hospital) ;
Furlong, Sarah (Macquarie University) ;
Mathers, Susan (Calvary Health Care Bethlehem) ;
McCombe, Pamela A. (University of Queensland) ;
Needham, Merrilee (Murdoch University) ;
Ngo, Shyuan T. (University of Queensland) ;
Nicholson, Garth A. (Concord Repatriation General Hospital) ;
Pamphlett, Roger (University of Sydney) ;
Rowe, Dominic B. (Macquarie University) ;
Steyn, Frederik J. (University of Queensland) ;
Williams, Kelly (Macquarie University) ;
Mather, Karen A. (Neuroscience Research Australia Institute) ;
Sachdev, Perminder S. (the Prince of Wales Hospital) ;
Henders, Anjali K. (University of Queensland) ;
Wallace, Leanne (University of Queensland) ;
De Carvalho, Mamede (Universidade de Lisboa) ;
Pinto, Susana (Universidade de Lisboa) ;
Petri, Susanne (Hannover Medical School) ;
Weber, Markus (Kantonsspital St. Gallen) ;
Rouleau, Guy A. (McGill University) ;
Silani, Vincenzo (Università degli Studi di Milano) ;
Curtis, Charles J. (King's College London) ;
Breen, Gerome (King's College London) ;
Glass, Jonathan D. (Emory University School of Medicine) ;
Brown, Robert H. (University of Massachusetts Medical School) ;
Landers, John E. (University of Massachusetts Medical School) ;
Shaw, Christopher E. (King's College London) ;
Andersen, Peter Munch (Umeå University) ;
Groen, Ewout J. N. (Utrecht University) ;
van Es, Michael A. (Utrecht University) ;
Pasterkamp, R. Jeroen (Utrecht University) ;
Fan, Dongsheng (Peking University) ;
Garton, Fleur C. (University of Queensland) ;
McRae, Allan F. (University of Queensland) ;
Smith, George Davey (Bristol Medical School) ;
Gaunt, Tom (Bristol Medical School) ;
Eberle, Michael A. (Illumina) ;
Mill, Jonathan (University of Exeter) ;
McLaughlin, Russell L. (Trinity College Dublin) ;
Hardiman, Orla (Trinity College Dublin) ;
Kenna, Kevin P. (Utrecht University) ;
Wray, Naomi R. (University of Queensland) ;
Tsai, Ellen (Biogen. Translational Biology) ;
Runz, Heiko (Biogen. Translational Biology) ;
Franke, Lude (University Medical Centre Groningen) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ;
van den Berg, Leonard H. (Utrecht University) ;
Veldink, Jan (Utrecht University) ;
Universitat Autònoma de Barcelona
2022 - 10.1038/s41588-022-01020-3
Nature genetics, Vol. 54 (january 2022) , p. 361
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13 p, 906.1 KB |
HPLC-MS/MS Oxylipin Analysis of Plasma from Amyotrophic Lateral Sclerosis Patients
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Mastrogiovanni, Mauricio (Universidad de la República, Montevideo. Departamento de Bioquímica) ;
Trostchansky, Andrés (Universidad de la República, Montevideo. Departamento de Bioquímica) ;
Naya, Hugo (Institut Pasteur-Montevideo. Unidad de Bioinformática) ;
Dominguez, Raúl (Institut d'Investigació Biomèdica de Bellvitge) ;
Marco, Carla (Institut d'Investigació Biomèdica de Bellvitge) ;
Povedano, Mònica (Institut d'Investigació Biomèdica de Bellvitge) ;
López Vales, Rubén (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Rubbo, Homero (Universidad de la República, Montevideo. Departamento de Bioquímica)
Oxylipins play a critical role in regulating the onset and resolution phase of inflammation. Despite inflammation is a pathological hallmark in amyotrophic lateral sclerosis (ALS), the plasma oxylipin profile of ALS patients has not been assessed yet. [...]
2022 - 10.3390/biomedicines10030674
Biomedicines, Vol. 10 Núm. 3 (2022) , p. 674
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14 p, 1.8 MB |
Cognitive decline in amyotrophic lateral sclerosis : Neuropathological substrate and genetic determinants
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Borrego-Écija, Sergi (Universitat de Barcelona) ;
Turon-Sans, Janina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ximelis, Teresa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Aldecoa, Iban (Hospital Clínic i Provincial de Barcelona) ;
Molina-Porcel, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Povedano, Mónica (Hospital Universitari de Bellvitge) ;
Rubio, Miguel Angel (Hospital del Mar (Barcelona, Catalunya)) ;
Gamez, Josep (Universitat Autònoma de Barcelona) ;
Cano, Antonio (Hospital de Mataró. Consorci Sanitari del Maresme) ;
Paré-Curell, Martí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Bajo, Lorena (Hospital Universitari de la Santa Creu de Vic) ;
Sotoca Fernández, Javier (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Balasa, Mircea (Universitat de Barcelona) ;
Antonell, Anna (Universitat de Barcelona) ;
Llado Plarrumani, Albert (Universitat de Barcelona) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rojas-Garcia, Ricard (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Gelpi, Ellen (Medical University of Vienna)
Cognitive impairment and behavioral changes in amyotrophic lateral sclerosis (ALS) are now recognized as part of the disease. Whether it is solely related to the extent of TDP-43 pathology is currently unclear. [...]
2021 - 10.1111/bpa.12942
Brain Pathology, Vol. 31 (february 2021)
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12 p, 1.9 MB |
TDP-43 Cytoplasmic Translocation in the Skin Fibroblasts of ALS Patients
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Rubio, Miguel Ángel (Hospital del Mar (Barcelona, Catalunya)) ;
Herrando-Grabulosa, Mireia (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Velasco, Roser (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Blasco, Israel (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Povedano, Monica (Institut d'Investigació Biomèdica de Bellvitge) ;
Navarro, X. (Xavier) (Universitat Autònoma de Barcelona. Institut de Neurociències)
Diagnosis of ALS is based on clinical symptoms when motoneuron degeneration is significant. Therefore, new approaches for early diagnosis are needed. We aimed to assess if alterations in appearance and cellular localization of cutaneous TDP-43 may represent a biomarker for ALS. [...]
2022 - 10.3390/cells11020209
Cells, Vol. 11 (january 2022)
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32 p, 8.9 MB |
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter (Utrecht University) ;
van der Spek, Rick A. A. (Utrecht University) ;
Bakker, Mark K. (Utrecht University) ;
van Vugt, Joke J. F. A. (Utrecht University) ;
Hop, Paul J. (Utrecht University) ;
Zwamborn, Ramona A. J. (Utrecht University.) ;
de Klein, Niek (University Medical Centre Groningen) ;
Westra, Harm-Jan (University Medical Centre Groningen) ;
Bakker, Olivier B. (University Medical Centre Groningen) ;
Deelen, Patrick (Utrecht University) ;
Shireby, Gemma (University of Exeter) ;
Hannon, Eilis (University of Exeter) ;
Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ;
Baird, Denis (University of Bristol) ;
Restuadi, Restuadi (University of Queensland) ;
Dolzhenko, Egor (Illumina) ;
Dekker, Annelot M. (Utrecht University) ;
Gawor, Klara (Utrecht University) ;
Westeneng, Henk-Jan (Utrecht University) ;
Tazelaar, Gijs H. P. (Utrecht University) ;
van Eijk, Kristel R. (Utrecht University) ;
Kooyman, Maarten (Utrecht University) ;
Byrne, Ross P. (Trinity College Dublin) ;
Doherty, Mark (Trinity College Dublin) ;
Heverin, Mark (Trinity College Dublin) ;
Al Khleifat, Ahmad (King's College London) ;
Iacoangeli, Alfredo (King's College London) ;
Shatunov, Aleksey (King's College London) ;
Ticozzi, Nicola (Università degli Studi di Milano) ;
Cooper-Knock, Johnathan (University of Sheffield) ;
Smith, Bradley N. (King's College London) ;
Gromicho, Marta (Universidade de Lisboa) ;
Chandran, Siddharthan (University of Edinburgh) ;
Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ;
Morrison, Karen E. (Queen's University Belfast) ;
Shaw, Pamela J. (University of Sheffield) ;
Hardy, John (University College London) ;
Orrell, Richard W. (University College London) ;
Sendtner, Michael (University Hospital Würzburg) ;
Meyer, Thomas (Humboldt University) ;
Başak, Nazli (Bogazici University) ;
van der Kooi, Anneke J. (Academic Medical Center) ;
Ratti, Antonia (Università degli Studi di Milano) ;
Fogh, Isabella (King's College London) ;
Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ;
Lauria, Giuseppe (University of Milan) ;
Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ;
Cereda, Cristina (IRCCS Mondino Foundation) ;
Sproviero, Daisy (IRCCS Mondino Foundation) ;
D'Alfonso, Sandra (University of Eastern Piedmont) ;
Sorarù, Gianni (University of Padova) ;
Siciliano, Gabriele (University of Pisa) ;
Filosto, Massimiliano (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Brunetti, Maura (University of Torino) ;
Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza.) ;
Grassano, Maurizio (University of Torino) ;
Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G) ;
Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ;
Osmanovic, Alma (University Hospital Essen (Alemanya)) ;
Nordin, Angelica (Umeå University) ;
Lerner, Yossef (Hadassah Medical Center) ;
Zabari, Michal (Hadassah Medical Center) ;
Gotkine, Marc (Hadassah Medical Center) ;
Baloh, Robert H. (Cedars-Sinai Medical Center) ;
Bell, Shaughn (Cedars-Sinai Medical Center) ;
Vourc'h, Patrick (UMR 1253, Université de Tours) ;
Corcia, Philippe (CHU de Tours) ;
Couratier, Philippe (Université de Limoges) ;
Millecamps, Stéphanie (ICM, Sorbonne Université) ;
Meininger, Vincent (Hôpital des Peupliers) ;
Salachas, François (Hôpital de la Pitié-Salpêtrière, AP-HP) ;
Mora Pardina, Jesus S. (Hospital San Rafael, Madrid) ;
Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Dion, Patrick A. (McGill University) ;
Ross, Jay P. (McGill University) ;
Ludolph, Albert C. (Ulm University) ;
Weishaupt, Jochen H. (Heidelberg University) ;
Brenner, David (Heidelberg University) ;
Freischmidt, Axel (German Center for Neurodegenerative Diseases (DZNE) Ulm) ;
Bensimon, Gilbert (CHU-Nîmes) ;
Brice, Alexis (Hôpital de la Pitié Salpêtrière.) ;
Durr, Alexandra (Hôpital de la Pitié Salpêtrière) ;
Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ;
Saker-Delye, Safa (Genethon, CNRS UMR) ;
Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ;
Topp, Simon (King's College London) ;
Rademakers, Rosa (Mayo Clinic College of Medicine) ;
Tittmann, Lukas (Christian Albrechts-University Kiel) ;
Lieb, Wolfgang (Christian Albrechts-University Kiel) ;
Franke, Andre (Kiel University) ;
Ripke, Stephan (Charité - Universitätsmedizin Berlin) ;
Braun, Alice (Charité - Universitätsmedizin Berlin) ;
Kraft, Julia (Charité - Universitätsmedizin Berlin) ;
Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ;
Hofman, Albert (Erasmus Medical Center Rotterdam) ;
Rietschel, Marcella (Heidelberg University. Central Institute of Mental Health) ;
Cichon, Sven (Institute of Neuroscience and Medicine INM-1, Research Center Juelich) ;
Nöthen, Markus M. (University of Bonn. Life and Brain Center) ;
Amouyel, Philippe (University of Lille) ;
Traynor, Bryan J. (Johns Hopkins University) ;
Singleton, Andrew B. (National Institute on Aging, NIH) ;
Mitne Neto, Miguel (Universidade de São Paulo) ;
Cauchi, Ruben J. (University of Malta) ;
Ophoff, Roel A. (University of California) ;
Wiedau-Pazos, Martina (University of California) ;
Lomen-Hoerth, Catherine (University of California) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Grosskreutz, Julian (University of Luebeck) ;
Roediger, Annekathrin (Jena University Hospital (Alemanya)) ;
Gaur, Nayana (Jena University Hospital (Alemanya)) ;
Jörk, Alexander (Jena University Hospital (Alemanya)) ;
Barthel, Tabea (Jena University Hospital (Alemanya)) ;
Theele, Erik (Jena University Hospital (Alemanya)) ;
Ilse, Benjamin (Jena University Hospital (Alemanya)) ;
Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ;
Witte, Otto W. (Jena University Hospital (Alemanya)) ;
Steinbach, Robert (Jena University Hospital (Alemanya)) ;
Hübner, Christian A. (Jena University Hospital (Alemanya)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ;
Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ;
Demeshonok, Vera (ALS-Care Center, 'GAOORDI', Medical Clinic of the St. Petersburg) ;
Ataulina, Anastasia (Bujanov Moscow Clinical Hospital) ;
Rogelj, Boris (University of Ljubljana) ;
Koritnik, Blaž (University Medical Centre Ljubljana.) ;
Zidar, Janez (University Medical Centre Ljubljana) ;
Ravnik-Glavač, Metka (University of Ljubljana.) ;
Glavač, Damjan (University of Ljubljana) ;
Stević, Zorica (University of Belgrade) ;
Drory, Vivian (Tel Aviv University) ;
Povedano, Monica (Hospital Universitari de Bellvitge) ;
Blair, Ian P. (Macquarie University) ;
Kiernan, Matthew C. (University of Sydney) ;
Benyamin, Beben (University of South Australia) ;
Henderson, Robert D. (Royal Brisbane and Women's Hospital) ;
Furlong, Sarah (Macquarie University) ;
Mathers, Susan (Calvary Health Care Bethlehem) ;
McCombe, Pamela A. (University of Queensland) ;
Needham, Merrilee (Murdoch University) ;
Ngo, Shyuan T. (University of Queensland) ;
Nicholson, Garth A. (Concord Repatriation General Hospital) ;
Pamphlett, Roger (University of Sydney) ;
Rowe, Dominic B. (Macquarie University) ;
Steyn, Frederik J. (University of Queensland) ;
Williams, Kelly (Macquarie University) ;
Mather, Karen A. (Neuroscience Research Australia Institute) ;
Sachdev, Perminder S. (Neuropsychiatric Institute) ;
Henders, Anjali K. (University of Queensland. Institute for Molecular Bioscience) ;
Wallace, Leanne (University of Queensland. Institute for Molecular Bioscience) ;
De Carvalho, Mamede (Universidade de Lisboa) ;
Pinto, Susana (Universidade de Lisboa) ;
Petri, Susanne (Hannover Medical School) ;
Weber, Markus (Kantonsspital St. Gallen) ;
Rouleau, Guy A. (McGill University) ;
Silani, Vincenzo (Università degli Studi di Milano) ;
Curtis, Charles J. (King's College London) ;
Breen, Gerome (King's College London.) ;
Glass, Jonathan D. (Emory University School of Medicine) ;
Brown, Robert H. (University of Massachusetts Medical School) ;
Landers, John E. (University of Massachusetts Medical School) ;
Shaw, Christopher E. (King's College London) ;
Andersen, Peter Munch (Umeå University) ;
Groen, Ewout J. N. (Utrecht University) ;
van Es, Michael A. (Utrecht University) ;
Pasterkamp, R. Jeroen (Utrecht University) ;
Fan, Dongsheng (Peking University) ;
Garton, Fleur C. (University of Queensland) ;
McRae, Allan F. (University of Queensland) ;
Smith, George Davey (Bristol Medical School) ;
Gaunt, Tom (Bristol Medical School) ;
Eberle, Michael A. (Illumina) ;
Mill, Jonathan (University of Exeter) ;
McLaughlin, Russell L. (Trinity College Dublin) ;
Hardiman, Orla (Trinity College Dublin) ;
Kenna, Kevin P. (Utrecht University) ;
Wray, Naomi R. (University of Queensland) ;
Tsai, Ellen (Biogen) ;
Runz, Heiko (Biogen. Translational Biology) ;
Franke, Lude (University Medical Centre Groningen) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ;
van den Berg, Leonard H. (Utrecht University) ;
Veldink, Jan (Utrecht University) ;
Universitat Autònoma de Barcelona
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. [...]
2021 - 10.1038/s41588-021-00973-1
Nature genetics, Vol. 53 (december 2021) , p. 1636-1648
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