Your browser doesn't support javascript.
loading
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
Bergareche, Alberto; Bednarz, Marcin; Sánchez, Elena; Krebs, Catharine E; Ruiz-Martinez, Javier; De La Riva, Patricia; Makarov, Vladimir; Gorostidi, Ana; Jurkat-Rott, Karin; Marti-Masso, Jose Felix; Paisán-Ruiz, Coro.
Afiliação
  • Bergareche A; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
  • Bednarz M; Division of Neurophysiology, Ulm University, Albert-Einstein-Allee 11, 89070 Ulm, Germany.
  • Sánchez E; Department of Neurology.
  • Krebs CE; Department of Neurology.
  • Ruiz-Martinez J; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
  • De La Riva P; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
  • Makarov V; Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, NY 10065, USA.
  • Gorostidi A; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
  • Jurkat-Rott K; Division of Neurophysiology, Ulm University, Albert-Einstein-Allee 11, 89070 Ulm, Germany.
  • Marti-Masso JF; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Department of Neurosciences University of the Basque Country, EHU-UPV San Sebastián Gipuzkoa Spain, Centro de Investigación Biomédica
  • Paisán-Ruiz C; Department of Neurology, Department of Psychiatry, Department of Genetics and Genomic Sciences, Friedman Brain Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA and coro.paisan-ruiz@mssm.edu.
Hum Mol Genet ; 24(24): 7111-20, 2015 Dec 15.
Article em En | MEDLINE | ID: mdl-26427606
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Tremor Essencial / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.4 / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Tremor Essencial / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.4 / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article