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Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes.
Gisatulin, Maria; Dobricic, Valerija; Zühlke, Christine; Hellenbroich, Yorck; Tadic, Vera; Münchau, Alexander; Isenhardt, Klaus; Bürk, Katrin; Bahlo, Melanie; Lockhart, Paul J; Lohmann, Katja; Helmchen, Christoph; Brüggemann, Norbert.
Afiliação
  • Gisatulin M; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Dobricic V; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Zühlke C; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Hellenbroich Y; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Tadic V; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Münchau A; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Isenhardt K; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Bürk K; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Bahlo M; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Lockhart PJ; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Lohmann K; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Helmchen C; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
  • Brüggemann N; From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Sc
Neurology ; 95(21): e2912-e2923, 2020 11 24.
Article em En | MEDLINE | ID: mdl-32873692
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Proteína de Replicação C Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Proteína de Replicação C Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article