Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement,Movement Disorders

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Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Movement Disorders ( IF 7.4 ) Pub Date : 2021-10-01 , DOI: 10.1002/mds.28804
Michael Zech _{1,

2,

3} , Kishore R Kumar _{4,

5} , Sophie Reining ₆ , Janine Reunert ₆ , Michel Tchan _{7,

8} , Lisa G Riley _{9,

10} , Alexander P Drew ₅ , Robert J Adam _{11,

12} , Riccardo Berutti _{1,

2,

3} , Saskia Biskup ₁₃ , Nicolas Derive ₁₄ , Somayeh Bakhtiari _{15,

16} , Sheng Chih Jin ₁₇ , Michael C Kruer _{15,

16} , Tanya Bardakjian ₁₈ , Pedro Gonzalez-Alegre ₁₈ , Ignacio J Keller Sarmiento ₁₉ , Niccolo E Mencacci ₁₉ , Steven J Lubbe ₁₉ , Manju A Kurian _{20,

21} , Fabienne Clot _{14,

22} , Aurélie Méneret ₂₃ , Jean-Madeleine de Sainte Agathe _{14,

24} , Victor S C Fung _{25,

26} , Marie Vidailhet ₂₃ , Matthias Baumann ₂₇ , Thorsten Marquardt ₆ , Juliane Winkelmann _{1,

2,

3,

28,

29} , Sylvia Boesch ₃₀

Affiliation

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Technical University of Munich, Munich, Germany.
School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.
Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Department of General Paediatrics, University of Münster, Münster, Germany.
Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.
Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.
Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, New South Wales, Australia.
Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.
CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.
Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.
Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.
Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
AP-HP Sorbonne Université, Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France.
AP-HP Sorbonne Université, Laboratoire de Médecine Génomique, Hôpital Pitié-Salpêtrière, Paris, France.
Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.
Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gene–disease relationships can be challenging.

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