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Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
Huang, Miaozhen; Nibbeling, Esther A R; Lagrand, Tjerk J; Souza, Ivana A; Groen, Justus L; Gandini, Maria A; Zhang, Fang-Xiong; Koelman, Johannes H T M; Adir, Noam; Sinke, Richard J; Zamponi, Gerald W; Tijssen, Marina A J; Verbeek, Dineke S.
Afiliação
  • Huang M; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. box 30 001, 9700 RB, Groningen, The Netherlands.
  • Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Lagrand TJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Souza IA; Department of Physiology and Pharmacology, Hotchkiss Brain Institute, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Groen JL; Department of Neurosurgery, Leiden University Medical Centre, Leiden, The Netherlands.
  • Gandini MA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Zhang FX; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Koelman JHTM; Department of Neurology and Clinical Neurophysiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Adir N; Schulich Faculty of Chemistry, Technion-Israel Institute of Technology, Technion, Israel.
  • Sinke RJ; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. box 30 001, 9700 RB, Groningen, The Netherlands.
  • Zamponi GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Tijssen MAJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Verbeek DS; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. box 30 001, 9700 RB, Groningen, The Netherlands. D.S.Verbeek@umcg.nl.
Mol Brain ; 14(1): 18, 2021 01 21.
Article em En | MEDLINE | ID: mdl-33478561
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Mutação de Sentido Incorreto / Distúrbios Distônicos / Canais de Cálcio Tipo T Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Mutação de Sentido Incorreto / Distúrbios Distônicos / Canais de Cálcio Tipo T Idioma: En Ano de publicação: 2021 Tipo de documento: Article