Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Author:

Zech Michael123ORCID,Kumar Kishore R.45,Reining Sophie6,Reunert Janine6,Tchan Michel78,Riley Lisa G.910,Drew Alexander P.5,Adam Robert J.1112,Berutti Riccardo123,Biskup Saskia13,Derive Nicolas14,Bakhtiari Somayeh1516,Jin Sheng Chih17,Kruer Michael C.1516,Bardakjian Tanya18,Gonzalez‐Alegre Pedro18,Keller Sarmiento Ignacio J.19,Mencacci Niccolo E.19ORCID,Lubbe Steven J.19,Kurian Manju A.2021ORCID,Clot Fabienne1422,Méneret Aurélie23,Sainte Agathe Jean‐Madeleine1424,Fung Victor S.C.2526ORCID,Vidailhet Marie23,Baumann Matthias27,Marquardt Thorsten6,Winkelmann Juliane1232829,Boesch Sylvia30

Affiliation:

1. Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany

2. Technical University of Munich Munich Germany

3. School of Medicine, Technical University of Munich Institute of Human Genetics Munich Germany

4. Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital The University of Sydney Sydney New South Wales Australia

5. Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Darlinghurst New South Wales Australia

6. Department of General Paediatrics University of Münster Münster Germany

7. Department of Genetic Medicine Westmead Hospital Westmead New South Wales Australia

8. Sydney Medical School University of Sydney Camperdown New South Wales Australia

9. Discipline of Child & Adolescent Health, Sydney Medical School University of Sydney Sydney New South Wales Australia

10. Rare Diseases Functional Genomics, Kids Research The Children's Hospital at Westmead and The Children's Medical Research Institute Sydney New South Wales Australia

11. Department of Neurology Royal Brisbane and Women's Hospital Brisbane Queensland Australia

12. Centre for Clinical Research The University of Queensland Brisbane Queensland Australia

13. CeGaT GmbH und Praxis für Humangenetik Tübingen Tübingen Germany

14. Laboratoire de Biologie Médicale Multi‐Sites SeqOIA Paris France

15. Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital Phoenix Arizona USA

16. Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics University of Arizona College of Medicine–Phoenix Phoenix Arizona USA

17. Department of Genetics Washington University School of Medicine St. Louis Missouri USA

18. Department of Neurology, Perelman School of Medicine The University of Pennsylvania Philadelphia Pennsylvania USA

19. Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine Chicago Illinois USA

20. Department of Developmental Neurosciences UCL Great Ormond Street Institute of Child Health London United Kingdom

21. Department of Neurology Great Ormond Street Hospital London United Kingdom

22. AP‐HP Sorbonne Université, Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié‐Salpêtrière Paris France

23. Sorbonne Université, Paris Brain Institute–ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié‐Salpêtrière, DMU Neurosciences Paris France

24. AP‐HP Sorbonne Université, Laboratoire de Médecine Génomique, Hôpital Pitié‐Salpêtrière Paris France

25. Movement Disorders Unit, Neurology Department Westmead Hospital Westmead New South Wales Australia

26. Sydney Medical School University of Sydney Sydney New South Wales Australia

27. Department of Pediatrics Medical University of Innsbruck Innsbruck Austria

28. Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

29. Munich Cluster for Systems Neurology, SyNergy Munich Germany

30. Department of Neurology Medical University of Innsbruck Innsbruck Austria

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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