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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
Piard, Juliette; Béreau, Matthieu; XiangWei, Wenshu; Wirth, Thomas; Amsallem, Daniel; Buisson, Lauren; Richard, Philippe; Liu, Nana; Xu, Yuchen; Myers, Scott J; Traynelis, Stephen F; Chelly, Jameleddine; Anheim, Mathieu; Raynaud, Martine; Maldergem, Lionel Van; Yuan, Hongjie.
  • Piard J; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.
  • Béreau M; Unité de recherche en neurosciences intégratives et cognitives EA481, Université de Franche-Comté, Besançon, France.
  • XiangWei W; Unité de recherche en neurosciences intégratives et cognitives EA481, Université de Franche-Comté, Besançon, France.
  • Wirth T; Service de Neurologie, CHU, Besançon, France.
  • Amsallem D; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Buisson L; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Richard P; Service de Neuropédiatrie, CHU, Besançon, France.
  • Liu N; Service de Neuropédiatrie, CHU, Besançon, France.
  • Xu Y; Service de Neurologie, CHU, Besançon, France.
  • Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Chelly J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Anheim M; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Raynaud M; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Maldergem LV; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Yuan H; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.
Mov Disord ; 35(7): 1224-1232, 2020 07.
Article en En | MEDLINE | ID: mdl-32369665
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Corea / Trastorno del Espectro Autista / Mioclonía Tipo de estudio: Etiology_studies Límite: Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Corea / Trastorno del Espectro Autista / Mioclonía Tipo de estudio: Etiology_studies Límite: Humans / Male Idioma: En Año: 2020 Tipo del documento: Article