The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

Author:

Moisse Matthieu12ORCID,Zwamborn Ramona A. J.3,Vugt Joke3ORCID,Spek Rick3ORCID,Rheenen Wouter3ORCID,Kenna Brendan3,Van Eijk Kristel3,Kenna Kevin3,Corcia Philippe45ORCID,Couratier Philippe4ORCID,Vourc'h Patrick5ORCID,Hardiman Orla6ORCID,McLaughin Russell7ORCID,Gotkine Marc8ORCID,Drory Vivian9,Ticozzi Nicola1011ORCID,Silani Vincenzo1011ORCID,Carvalho Mamede12ORCID,Mora Pardina Jesús S.13ORCID,Povedano Monica14,Andersen Peter M.15ORCID,Weber Markus16,Başak Nazli A.17ORCID,Chen Xiao18ORCID,Eberle Michael A.18ORCID,Al‐Chalabi Ammar19ORCID,Shaw Chris19,Shaw Pamela J.20ORCID,Morrison Karen E.21ORCID,Landers John E.22ORCID,Glass Jonathan D.23ORCID,Robberecht Wim124,Es Michael3ORCID,Berg Leonard3ORCID,Veldink Jan3ORCID,Van Damme Philip1224ORCID,

Affiliation:

1. Departments of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI) KU Leuven – University of Leuven Leuven Belgium

2. Laboratory of Neurobiology VIB, Center for Brain and Disease Research Leuven Belgium

3. Department of Neurology UMC Utrecht Brain Center, Utrecht University Utrecht The Netherlands

4. Centre SLA, CHRU de Tours Tours France

5. UMR 1253, iBrain, Université de Tours, Inserm Tours France

6. Academic Unit of Neurology Trinity College Dublin, Trinity Biomedical Sciences Institute Dublin Republic of Ireland

7. Complex Trait Genomics Laboratory Smurfit Institute of Genetics, Trinity College Dublin Dublin Republic of Ireland

8. The Agnes Ginges Center for Human Neurogenetics Hadassah‐Hebrew University Medical Center Jerusalem Israel

9. Department of Neurology Tel‐Aviv Sourasky Medical Centre Tel Aviv Israel

10. Department of Neurology, Stroke Unit and Laboratory of Neuroscience IRCCS Istituto Auxologico Italiano Milano Italy

11. Department of Pathophysiology and Transplantation “Dino Ferrari” Center, Università degli Studi di Milano Milan Italy

12. Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina Universidade de Lisboa Lisbon Portugal

13. ALS Unit Hospital San Rafael Madrid Spain

14. Servei de Neurologia, HUB‐IDIBELL Barcelona Spain

15. Department of Clinical Science, Neurosciences Umeå University Umeå Sweden

16. Neuromuscular Diseases Unit/ALS Clinic St. Gallen Switzerland

17. Koç University, School of Medicine, KUTTAM‐NDAL Istanbul Turkey

18. Illumina Inc. San Diego CA

19. Department of Basic and Clinical Neuroscience Maurice Wohl Clinical Neuroscience Institute, King's College London London UK

20. Sheffield Institute for Translational Neuroscience (SITraN) University of Sheffield Sheffield UK

21. School of Medicine, Dentistry, and Biomedical Sciences Queen's University Belfast Belfast UK

22. Department of Neurology University of Massachusetts Medical School Worcester MA

23. Department Neurology Emory University School of Medicine Atlanta GA

24. Department of Neurology University Hospitals Leuven Leuven Belgium

Funder

Agentschap voor Innovatie door Wetenschap en Technologie

Fonds Wetenschappelijk Onderzoek

Horizon 2020 Framework Programme

KU Leuven

Motor Neurone Disease Association

National Institute for Health Research

National Institute of Neurological Disorders and Stroke

Science Foundation Ireland

Wellcome Trust

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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