Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

Autor: van Rheenen, W, van der Spek, RAA, Bakker, MK, van Vugt, JJFA, Hop, PJ, Zwamborn, RAJ, de Klein, N, Westra, HJ, Bakker, OB, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, AM, Gawor, K, Westeneng, HJ, Tazelaar, GHP, van Eijk, KR, Kooyman, M, Byrne, RP, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, BN, Gromicho, M, Chandran, S, Pal, S, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Sendtner, M, Meyer, T, Basak, N, van der Kooi, AJ, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, RH, Bell, S, Vourc'h, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Pardina, JMS, Assialioui, A, Rojas-Garcia, R, Dion, PA, Ross, JP, Ludolph, AC, Weishaupt, JH, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, CAM, Saker-Delye, S, Wood, NW, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, DC, Olsen, CM, Uitterlinden, AG, Hofman, A, Rietschel, M, Cichon, S, Nothen, MM, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, MS, Rinaldi, F, Chiveri, L, Guaita, MC, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, ML, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, MC, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, De Marchi, F, D'Alfonso, S, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, DM, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Corrado, L, Mazzini, L, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, IL, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, BJ, Singleton, AB, Neto, MM, Cauchi, RJ, Ophoff, RA, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, VM, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, OW, Steinbach, R, Hubner, CA, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, IP, Kiernan, MC, Benyamin, B, Henderson, RD, Furlong, S, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, GA, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Mather, KA, Sachdev, PS, Henders, AK, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, GA, Silani, V, Curtis, CJ, Breen, G, Glass, JD, Brown, RH, Landers, JE, Shaw, CE, Andersen, PM, Groen, EJN, van Es, MA, Pasterkamp, RJ, Fan, DS, Garton, FC, McRae, AF, Smith, GD, Gaunt, TR, Eberle, MA, Mill, J, McLaughlin, RL, Hardiman, O, Kenna, KP, Wray, NR, Tsai, EL, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, LH, Veldink, JH, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium

Publikováno v: NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::14d0bed056ea6e9b6c5550b9e67e8ce3
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8163

CHCHD10 variants in amyotrophic lateral sclerosis: where is the evidence?

Autor: Tazelaar, GHP, van Rheenen, W, Pulit, SL, van der Spek, RAA, Dekker, AM, Moisse, M, McLaughlin, RL, Sproviero, W, Kenna, KP, Kooyman, M, van Doormaal, PTC, van Eijk, KE, Middelkoop, BM, Schellevis, RD, Brands, WJ, Al-Chalabi, A, Morrison, KE, Shaw, PJ, Shaw, CE, Newhouse, SE, van Es, MA, Basak, AN, Akçimen, F, Kocoglu, C, Tunca, C, Povedano, M, Mora, JS, Glass, JD, Van Damme, P, Robberecht, W, HardimanMD, O, Landers, JE, van den Berg, LH, Veldink, JH

© 2018 American Neurological Association Objective: After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6822f0c8d0228b9641fa10e04b8adf79
https://eprints.soton.ac.uk/425106/

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.

Autor: Al Khleifat A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom., Iacoangeli A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Jones AR; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom., van Vugt JJFA; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Moisse M; Department of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium., Shatunov A; Institute of Medicine, North-Eastern Federal University, Yakutsk, Russia.; Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, United Kingdom., Zwamborn RAJ; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., van der Spek RAA; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Topp S; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom., van Rheenen W; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Kenna B; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Van Eijk KR; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Kenna K; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Byrne R; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., López V; Computational Biology Unit, Instituto de Salud Carlos III, Madrid, Spain., Opie-Martin S; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom., Vural A; School of Medicine, Translational Medicine Research Center-NDAL, Koc University, Istanbul, Turkey., Campos Y; Computational Biology Unit, Instituto de Salud Carlos III, Madrid, Spain., Weber M; School of Medicine, Translational Medicine Research Center-NDAL, Koc University, Istanbul, Turkey.; Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland., Smith B; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom., Fogh I; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Morrison KE; Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, Belfast, United Kingdom., Dobson R; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; Institute of Health Informatics, University College London, London, United Kingdom., van Es MA; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., McLaughlin RL; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Vourc'h P; Centre SLA, CHRU de Tours, Tours, France., Chio A; Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Azienda Ospedaliera Citta della Salute e della Scienza, Turin, Italy., Corcia P; Centre SLA, CHRU de Tours, Tours, France.; Federation des Centres SLA Tours and Limoges, LITORALS, Tours, France., de Carvalho M; Physiology Institute, Faculty of Medicine, Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal., Gotkine M; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Panades MP; Department of Neurology, Hospital Universitari de Bellvitge, Barcelona, Spain., Mora JS; Hospital San Rafael, Madrid, Spain., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, United States., Glass JD; Department of Neurology, Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, United States., Shaw CE; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom.; King's College Hospital, London, United Kingdom., Basak N; School of Medicine, Translational Medicine Research Center-NDAL, Koc University, Istanbul, Turkey., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Robberecht W; Department of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., Van Damme P; Department of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., van den Berg LH; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Veldink JH; Department of Neurology, University Medical Center (UMC) Utrecht Brain Center, Utrecht University, Utrecht, Netherlands., Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom.; King's College Hospital, London, United Kingdom.

Publikováno v: Frontiers in cellular neuroscience [Front Cell Neurosci] 2022 Dec 15; Vol. 16, pp. 1050596. Date of Electronic Publication: 2022 Dec 15 (Print Publication: 2022).

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Autor: van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. w.vanrheenen-2@umcutrecht.nl., van der Spek RAA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bakker MK; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Vugt JJFA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Hop PJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Zwamborn RAJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., de Klein N; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., Westra HJ; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., Bakker OB; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., Deelen P; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Shireby G; University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK., Hannon E; University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK., Moisse M; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, VIB, Center for Brain & Disease Research, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., Baird D; Translational Biology, Biogen, Boston, MA, USA.; MRC Integrative Epidemiology Unit (IEU), Population Health Sciences, University of Bristol, Bristol, UK., Restuadi R; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia., Dolzhenko E; Illumina, San Diego, CA, USA., Dekker AM; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Gawor K; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Westeneng HJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Tazelaar GHP; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Eijk KR; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Kooyman M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Byrne RP; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Doherty M; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Heverin M; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland., Al Khleifat A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; National Institute for Health Research Biomedical Research Centre and Dementia Unit, South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Ticozzi N; Department of Neurology, Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Gromicho M; Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., Chandran S; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK.; UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK., Pal S; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK.; UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK., Morrison KE; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Hardy J; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK., Orrell RW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Sendtner M; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany., Meyer T; Charité University Hospital, Humboldt University, Berlin, Germany., Başak N; Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey., van der Kooi AJ; Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands., Ratti A; Department of Neurology, Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, Italy., Fogh I; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', MIlan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy., Corti S; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Cereda C; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., Sproviero D; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Padovani A; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Neurologia 1, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Neurologia 1, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Neurologia 1, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Brunetti M; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy., Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Neurologia 1, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Grassano M; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy., Beghi E; Laboratory of Neurological Diseases, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy., Pupillo E; Laboratory of Neurological Diseases, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy., Logroscino G; Department of Clinical Research in Neurology, University of Bari at 'Pia Fondazione Card G. Panico' Hospital, Bari, Italy., Nefussy B; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Osmanovic A; Department of Neurology, Hannover Medical School, Hannover, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), University Hospital Essen, Essen, Germany., Nordin A; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Lerner Y; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Neurology, the Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Center, Jerusalem, Israel., Zabari M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Neurology, the Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Center, Jerusalem, Israel., Gotkine M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Neurology, the Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Center, Jerusalem, Israel., Baloh RH; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Department of Neurology, Neuromuscular Division, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Bell S; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Department of Neurology, Neuromuscular Division, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Vourc'h P; Service de Biochimie et Biologie Moléculaire, CHU de Tours, Tours, France.; UMR 1253, Université de Tours, Inserm, Tours, France., Corcia P; UMR 1253, Université de Tours, Inserm, Tours, France.; Centre de référence sur la SLA, CHU de Tours, Tours, France., Couratier P; Centre de référence sur la SLA, CHRU de Limoges, Limoges, France.; UMR 1094, Université de Limoges, Inserm, Limoges, France., Millecamps S; ICM, Institut du Cerveau, Inserm, CNRS, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Meininger V; Hôpital des Peupliers, Ramsay Générale de Santé, Paris, France., Salachas F; ICM, Institut du Cerveau, Inserm, CNRS, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.; Département de Neurologie, Centre de référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France., Mora Pardina JS; ALS Unit, Hospital San Rafael, Madrid, Spain., Assialioui A; Functional Unit of Amyotrophic Lateral Sclerosis (UFELA), Service of Neurology, Bellvitge University Hospital, L'Hospitalet de Llobregat, Barcelona, Spain., Rojas-García R; MND Clinic, Neurology Department, Hospital de la Santa Creu i Sant Pau de Barcelona, Universitat Autonoma de Barcelona, Barcelona, Spain., Dion PA; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Ross JP; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Ludolph AC; Department of Neurology, Ulm University, Ulm, Germany., Weishaupt JH; Division of Neurodegeneration, Department of Neurology, University Medicine Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Brenner D; Division of Neurodegeneration, Department of Neurology, University Medicine Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Freischmidt A; Department of Neurology, Ulm University, Ulm, Germany.; German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany., Bensimon G; Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, UPMC Pharmacologie, AP-HP, Paris, France.; Pharmacologie Sorbonne Université, Paris, France.; Institut du Cerveau, Paris Brain Institute ICM, Paris, France.; Laboratoire de Biostatistique, Epidémiologie Clinique, Santé Publique Innovation et Méthodologie (BESPIM), CHU-Nîmes, Nîmes, France., Brice A; Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Hôpital de la Pitié Salpêtrière, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Hôpital de la Pitié Salpêtrière, Paris, France., Payan CAM; Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, UPMC Pharmacologie, AP-HP, Paris, France., Saker-Delye S; Genethon, CNRS UMR, Evry, France., Wood NW; Department of Clinical and Movement Neuroscience, UCL Institute of Neurology, Queen Square, London, UK., Topp S; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Rademakers R; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA., Tittmann L; Popgen Biobank and Institute of Epidemiology, Christian Albrechts-University Kiel, Kiel, Germany., Lieb W; Popgen Biobank and Institute of Epidemiology, Christian Albrechts-University Kiel, Kiel, Germany., Franke A; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Ripke S; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Psychiatry and Psychotherapy, Charité-Universitätsmedizin, Berlin, Germany., Braun A; Department of Psychiatry and Psychotherapy, Charité-Universitätsmedizin, Berlin, Germany., Kraft J; Department of Psychiatry and Psychotherapy, Charité-Universitätsmedizin, Berlin, Germany., Whiteman DC; Cancer Control Group, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia., Olsen CM; Cancer Control Group, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia., Uitterlinden AG; Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., Hofman A; Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., Rietschel M; Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.; Central Institute of Mental Health, Mannheim, Germany., Cichon S; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life and Brain Center, Bonn, Germany.; Division of Medical Genetics, University Hospital Basel and Department of Biomedicine, University of Basel, Basel, Switzerland.; Institute of Neuroscience and Medicine INM-1, Research Center Juelich, Juelich, Germany., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life and Brain Center, Bonn, Germany., Amouyel P; INSERM UMR1167-RID-AGE LabEx DISTALZ-Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille, Centre Hospitalier of the University of Lille, Institut Pasteur de Lille, Lille, France., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University, Baltimore, MD, USA., Singleton AB; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD, USA., Mitne Neto M; 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Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Kiernan MC; Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia., Benyamin B; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.; Australian Centre for Precision Health and Allied Health and Human Performance, University of South Australia, Adelaide, South Australia, Australia., Henderson RD; Centre for Clinical Research, Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, Queensland, Australia.; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Furlong S; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Mathers S; Calvary Health Care Bethlehem, Parkdale, Victoria, Australia., McCombe PA; 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Publikováno v: Nature genetics [Nat Genet] 2022 Mar; Vol. 54 (3), pp. 361.

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

Autor: van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. w.vanrheenen-2@umcutrecht.nl., van der Spek RAA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bakker MK; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Vugt JJFA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Hop PJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Zwamborn RAJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., de Klein N; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., Westra HJ; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., Bakker OB; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., Deelen P; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Shireby G; University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK., Hannon E; University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK., Moisse M; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, VIB, Center for Brain & Disease Research, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., Baird D; Translational Biology, Biogen, Boston, MA, USA.; MRC Integrative Epidemiology Unit (IEU), Population Health Sciences, University of Bristol, Bristol, UK., Restuadi R; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia., Dolzhenko E; Illumina, San Diego, CA, USA., Dekker AM; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Gawor K; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Westeneng HJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Tazelaar GHP; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Eijk KR; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Kooyman M; 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National Institute for Health Research Biomedical Research Centre and Dementia Unit, South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Ticozzi N; Department of Neurology, Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Gromicho M; Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., Chandran S; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK.; UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK., Pal S; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK.; UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK., Morrison KE; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Hardy J; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK., Orrell RW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Sendtner M; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany., Meyer T; Charité University Hospital, Humboldt University, Berlin, Germany., Başak N; Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey., van der Kooi AJ; Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands., Ratti A; Department of Neurology, Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, Italy., Fogh I; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', MIlan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy., Corti S; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Cereda C; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., Sproviero D; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Padovani A; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Neurologia 1, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Neurologia 1, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Moglia C; 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Panico' Hospital, Bari, Italy., Nefussy B; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Osmanovic A; Department of Neurology, Hannover Medical School, Hannover, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), University Hospital Essen, Essen, Germany., Nordin A; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Lerner Y; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Neurology, the Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Center, Jerusalem, Israel., Zabari M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Neurology, the Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Center, Jerusalem, Israel., Gotkine M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Neurology, the Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Center, Jerusalem, Israel., Baloh RH; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Department of Neurology, Neuromuscular Division, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Bell S; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Department of Neurology, Neuromuscular Division, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Vourc'h P; Service de Biochimie et Biologie Moléculaire, CHU de Tours, Tours, France.; UMR 1253, Université de Tours, Inserm, Tours, France., Corcia P; UMR 1253, Université de Tours, Inserm, Tours, France.; Centre de référence sur la SLA, CHU de Tours, Tours, France., Couratier P; Centre de référence sur la SLA, CHRU de Limoges, Limoges, France.; UMR 1094, Université de Limoges, Inserm, Limoges, France., Millecamps S; ICM, Institut du Cerveau, Inserm, CNRS, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Meininger V; Hôpital des Peupliers, Ramsay Générale de Santé, Paris, France., Salachas F; 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Division of Neurodegeneration, Department of Neurology, University Medicine Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Brenner D; Division of Neurodegeneration, Department of Neurology, University Medicine Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Freischmidt A; Department of Neurology, Ulm University, Ulm, Germany.; German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany., Bensimon G; Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, UPMC Pharmacologie, AP-HP, Paris, France.; Pharmacologie Sorbonne Université, Paris, France.; Institut du Cerveau, Paris Brain Institute ICM, Paris, France.; Laboratoire de Biostatistique, Epidémiologie Clinique, Santé Publique Innovation et Méthodologie (BESPIM), CHU-Nîmes, Nîmes, France., Brice A; Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Hôpital de la Pitié Salpêtrière, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Hôpital de la Pitié Salpêtrière, Paris, France., Payan CAM; 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Publikováno v: Nature genetics [Nat Genet] 2021 Dec; Vol. 53 (12), pp. 1636-1648. Date of Electronic Publication: 2021 Dec 06.