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The rare and the common: An Austrian DRPLA family harboring the European haplotype.
Amprosi, Matthias; Zech, Michael; Lichtner, Peter; Eckstein, Gertrud; Unterberger, Iris; Eigentler, Andreas; Indelicato, Elisabetta; Puttinger, Gertraud; Nachbauer, Wolfgang; Boesch, Sylvia.
Afiliação
  • Amprosi M; Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Lichtner P; Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.
  • Eckstein G; Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.
  • Unterberger I; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Eigentler A; Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Indelicato E; Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Puttinger G; Department of Neurology 1, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.
  • Nachbauer W; Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: wolfgang.nachbauer@i-med.ac.at.
  • Boesch S; Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Parkinsonism Relat Disord ; 87: 119-121, 2021 06.
Article em En | MEDLINE | ID: mdl-34022586
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas / Proteínas do Tecido Nervoso Tipo de estudo: Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Áustria
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas / Proteínas do Tecido Nervoso Tipo de estudo: Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Áustria