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A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A; Wiethoff, Sarah; Houlden, Henry; Havránková, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej.
Affiliation
  • Ostrozovicova M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Jech R; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Steel D; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Pavelekova P; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Han V; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Gdovinova Z; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Lichtner P; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Kurian MA; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Wiethoff S; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Houlden H; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Havránková P; Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.
  • Winkelmann J; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Zech M; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Skorvanek M; Department of Neurology with Institute for Translational Neurology, University Clinics, Munster, Germany.
Mov Disord ; 36(8): 1984-1985, 2021 08.
Article in En | MEDLINE | ID: mdl-33998058
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonic Disorders / Dystonia Limits: Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2021 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonic Disorders / Dystonia Limits: Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2021 Type: Article