Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Author:

Steel Dora12ORCID,Zech Michael34,Zhao Chen3,Barwick Katy E. S.1,Burke Derek5,Demailly Diane6,Kumar Kishore R.78910,Zorzi Giovanna11,Nardocci Nardo11,Kaiyrzhanov Rauan12,Wagner Matias34,Iuso Arcangela34,Berutti Riccardo4,Škorvánek Matej1314,Necpál Ján15,Davis Ryan7910,Wiethoff Sarah1617,Mankad Kshitij18,Sudhakar Sniya18,Ferrini Arianna1,Sharma Suvasini19,Kamsteeg Erik‐Jan20,Tijssen Marina A.21,Verschuuren Corien2223,Egmond Martje E.2122,Flowers Joanna M.24,McEntagart Meriel25,Tucci Arianna26,Coubes Philippe6,Bustos Bernabe I.27,Gonzalez‐Latapi Paulina27,Tisch Stephen28,Darveniza Paul28,Gorman Kathleen M.2930,Peall Kathryn J.31ORCID,Bötzel Kai32,Koch Jan C.33,Kmieć Tomasz34,Plecko Barbara35,Boesch Sylvia36,Haslinger Bernhard37,Jech Robert38,Garavaglia Barbara11,Wood Nick16,Houlden Henry12,Gissen Paul39,Lubbe Steven J.27,Sue Carolyn M.791040,Cif Laura6,Mencacci Niccolò E.27,Anderson Glenn41,Kurian Manju A.12,Winkelmann Juliane344243,

Affiliation:

1. Department of Developmental Neurosciences UCL Great Ormond Street Institute of Child Health London UK

2. Department of Neurology Great Ormond Street Hospital London UK

3. Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

4. Institute of Human Genetics Technical University of Munich Munich Germany

5. Enzyme Laboratory Great Ormond Street Hospital for Children London UK

6. Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire Montpellier France

7. Department of Neurogenetics, Kolling Institute of Medical Research University of Sydney and Northern Sydney Local Health District Sydney New South Wales Australia

8. Molecular Medicine Laboratory Concord Repatriation General Hospital Concord New South Wales Australia

9. Translational Genomics, Kinghorn Centre for Clinical Genomics Garvan Institute for Medical Research Sydney New South Wales Australia

10. Department of Neurogenetics University of Sydney and Northern Sydney Local Health District Sydney New South Wales Australia

11. Department of Child Neurology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

12. Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology London UK

13. Department of Neurology P. J. Safarik University Kosice Slovak Republic

14. Department of Neurology University Hospital of L. Pasteur Kosice Slovak Republic

15. Department of Neurology Zvolen Hospital Zvolen Slovakia

16. UCL Queen Square Institute of Neurology London UK

17. Department of Neurodegenerative Disease Hertie‐Institute for Clinical Brain Research and Center for Neurology, University of Tübingen Tübingen Germany

18. Department of Radiology Great Ormond Street Hospital for Children London UK

19. Neurology Division, Department of Pediatrics Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital New Delhi India

20. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

21. Department of Neurology University of Groningen, University Medical Center Groningen Groningen The Netherlands

22. Expertise Center Movement Disorders Groningen University Medical Center Groningen Groningen The Netherlands

23. Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands

24. Department of Neurology St. George's Hospital London UK

25. Department of Clinical Genetics St. George's Hospital London UK

26. Genomics England London UK

27. Ken and Ruth Davee Department of Neurology Northwestern University Feinberg School of Medicine Chicago IL USA

28. Department of Neurology St. Vincent's Hospital Sydney Australia

29. Department of Neurology and Clinical Neurophysiology Children's Health Ireland at Temple Street Dublin Ireland

30. UCD School of Medicine and Medical Science University College Dublin Dublin Ireland

31. University of Cardiff Cardiff, Wales UK

32. Department of Neurology Ludwig Maximilian University Munich Germany

33. Department of Neurology University Medical Center Göttingen Göttingen Germany

34. Department of Neurology and Epileptology Children's Memorial Health Institute Warsaw Poland

35. Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria

36. Department of Neurology Medical University Innsbruck Innsbruck Austria

37. Klinik und Poliklinik für Neurologie Klinikum rechts der Isar, Technische Universität München Munich Germany

38. Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic

39. Genetics and Genomic Medicine UCL Great Ormond Street Institute of Child Health London UK

40. Department of Neurology Royal North Shore Hospital, Northern Sydney Local Health District Sydney New South Wales Australia

41. Department of Histopathology Great Ormond Street Hospital for Children London UK

42. Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

43. Munich Cluster for Systems Neurology Munich Germany

Funder

Medical Research Council Canada

Cancer Research UK

Wellcome Trust

Department of Health, Australian Government

Fonds Psychische Gezondheid

Dystonia Medical Research Foundation

European Commission

ZonMw

National Health and Medical Research Council

European Social Fund

Rosetrees Trust

National Institute for Health Research

Ministry of Education

Univerzita Karlova v Praze

Medical University of Innsbruck

Helmholtz Centre Munich, German Research Center for Environmental Health

Technical University of Munich

EKFS

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Cited by 76 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3