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Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.
Rauschendorf, Marc-Alexander; Jost, Meike; Stock, Friedrich; Zimmer, Andreas; Rösler, Bernd; Rijntjes, Michel; Piroth, Tobias; Coenen, Volker Arnd; Reinacher, Peter Christoph; Meyer, Philipp T; Frings, Lars; Weiller, Cornelius; Fischer, Judith; Klebe, Stephan.
Afiliação
  • Rauschendorf MA; Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Jost M; Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Stock F; Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Zimmer A; Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Rösler B; Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Rijntjes M; Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Piroth T; Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Coenen VA; Department of Stereotactic and Functional Neurosurgery, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Reinacher PC; Department of Stereotactic and Functional Neurosurgery, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Meyer PT; Department of Nuclear Medicine, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Frings L; Department of Nuclear Medicine, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Weiller C; Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Fischer J; Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
  • Klebe S; Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
Mov Disord ; 32(3): 478-480, 2017 03.
Article em En | MEDLINE | ID: mdl-27869329

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Levodopa / Monoéster Fosfórico Hidrolases / Transtornos Parkinsonianos / Distúrbios Distônicos / Mutação / Proteínas do Tecido Nervoso / Antiparkinsonianos Tipo de estudo: Etiology_studies Limite: Humans / Male Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Levodopa / Monoéster Fosfórico Hidrolases / Transtornos Parkinsonianos / Distúrbios Distônicos / Mutação / Proteínas do Tecido Nervoso / Antiparkinsonianos Tipo de estudo: Etiology_studies Limite: Humans / Male Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha