Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

Pott, Hendrik; Brüggemann, Norbert; Reese, Rene; Zeuner, Kirsten E; Gandor, Florin; Gruber, Doreen; Klein, Christine; Volkmann, Jens; Lohmann, Katja

Pott, Hendrik; Brüggemann, Norbert; Reese, Rene; Zeuner, Kirsten E; Gandor, Florin; Gruber, Doreen; Klein, Christine; Volkmann, Jens; Lohmann, Katja.

Afiliação

Pott H; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Reese R; Department of Neurology, University Hospital Schleswig Holstein, Campus Lübeck, Germany.
Zeuner KE; Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel, Germany.
Gandor F; Department of Neurology, Rostock University Hospital, Rostock, Germany.
Gruber D; Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel, Germany.
Klein C; Beelitz Clinics, Beelitz-Heilstätten, Germany.
Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Ann Neurol ; 89(3): 625-626, 2021 03.

Article em En | MEDLINE | ID: mdl-33305852

Assuntos

Distonia; Distúrbios Distônicos; Distonia/genética; Distúrbios Distônicos/genética; Humanos; Lisossomos; Mutação/genética; Proteínas de Transporte Vesicular/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Distonia Limite: Humans Idioma: En Revista: Ann Neurol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha

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