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Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech, Michael; Kumar, Kishore R; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G; Drew, Alexander P; Adam, Robert J; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C; Bardakjian, Tanya; Gonzalez-Alegre, Pedro; Keller Sarmiento, Ignacio J; Mencacci, Niccolo E; Lubbe, Steven J; Kurian, Manju A; Clot, Fabienne; Méneret, Aurélie; de Sainte Agathe, Jean-Madeleine; Fung, Victor S C; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane; Boesch, Sylvia.
Afiliación
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Kumar KR; Technical University of Munich, Munich, Germany.
  • Reining S; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.
  • Reunert J; Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.
  • Tchan M; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Riley LG; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Drew AP; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Adam RJ; Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.
  • Berutti R; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.
  • Biskup S; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  • Derive N; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, New South Wales, Australia.
  • Bakhtiari S; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Jin SC; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
  • Kruer MC; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.
  • Bardakjian T; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Gonzalez-Alegre P; Technical University of Munich, Munich, Germany.
  • Keller Sarmiento IJ; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.
  • Mencacci NE; CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Lubbe SJ; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.
  • Kurian MA; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Clot F; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
  • Méneret A; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • de Sainte Agathe JM; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Fung VSC; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
  • Vidailhet M; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Baumann M; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Marquardt T; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Winkelmann J; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Boesch S; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
Mov Disord ; 37(1): 137-147, 2022 01.
Article en En | MEDLINE | ID: mdl-34596301
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / Distonía / Mutación con Pérdida de Función / Aminopeptidasas Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / Distonía / Mutación con Pérdida de Función / Aminopeptidasas Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Alemania