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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen, Justus L; Andrade, Arturo; Ritz, Katja; Jalalzadeh, Hamid; Haagmans, Martin; Bradley, Ted E J; Jongejan, Aldo; Verbeek, Dineke S; Nürnberg, Peter; Denome, Sylvia; Hennekam, Raoul C M; Lipscombe, Diane; Baas, Frank; Tijssen, Marina A J.
  • Groen JL; Department of Neurology, Department of Genome Analysis and Department of Neurosurgery, Leiden University Medical Center, Leiden, The Netherlands.
  • Andrade A; Department of Neuroscience, Brown University, Providence RI 02912, USA.
  • Ritz K; Department of Genome Analysis and.
  • Jalalzadeh H; Department of Neurology, Department of Genome Analysis and.
  • Haagmans M; Department of Genome Analysis and.
  • Bradley TE; Department of Genome Analysis and.
  • Jongejan A; Bioinformatics Laboratory, Clinical Epidemiology, Biostatistics and Bioinformatics and.
  • Verbeek DS; Department of Genetics, University of Groningen and.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Denome S; Department of Neuroscience, Brown University, Providence RI 02912, USA.
  • Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Lipscombe D; Department of Neuroscience, Brown University, Providence RI 02912, USA.
  • Baas F; Department of Neurology.
  • Tijssen MA; Department of Neurology, University of Groningen, Groningen, The Netherlands and m.a.j.de.koning-tijssen@umcg.nl.
Hum Mol Genet ; 24(4): 987-93, 2015 Feb 15.
Article en En | MEDLINE | ID: mdl-25296916
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / Canales de Calcio Tipo N / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / Canales de Calcio Tipo N / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article