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Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadège; Spitz, Marie Aude; Warde, Marie-Thérèse Abi; Schaefer, Elise; Kittke, Volker M Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcák, Ivo; Winkelmann, Juliane; Zech, Michael.
Afiliación
  • Harrer P; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Schalk A; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Shimura M; Institut de génétique médicale d'Alsace (IGMA), Laboratoires de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, France.
  • Baer S; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Calmels N; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Spitz MA; Department of Neuropediatrics, ERN EpiCare, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Warde MA; Institute for Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France.
  • Schaefer E; Institut de génétique médicale d'Alsace (IGMA), Laboratoires de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, France.
  • Kittke VMS; Laboratoire de Génétique Médicale, INSERM U1112, Institut de génétique médicale d'Alsace, CRBS, Strasbourg, France.
  • Dincer Y; Department of Neuropediatrics, ERN EpiCare, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Wagner M; Department of Neuropediatrics, ERN EpiCare, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Dzinovic I; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Sato T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Shirakawa T; Lehrstuhl für Sozialpädiatrie, Department of Pediatrics, Technische Universität München, Munich, Germany.
  • Okazaki Y; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany.
  • Murayama K; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Oexle K; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Mall V; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Melcák I; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Winkelmann J; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Zech M; Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
Ann Neurol ; 93(2): 330-335, 2023 02.
Article en En | MEDLINE | ID: mdl-36333996
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / Proteínas de Complejo Poro Nuclear / Distonía Límite: Humans Idioma: En Revista: Ann Neurol Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / Proteínas de Complejo Poro Nuclear / Distonía Límite: Humans Idioma: En Revista: Ann Neurol Año: 2023 Tipo del documento: Article País de afiliación: Alemania