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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-26427606
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Temblor Esencial / Epilepsia / Canal de Sodio Activado por Voltaje NAV1.4 / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Temblor Esencial / Epilepsia / Canal de Sodio Activado por Voltaje NAV1.4 / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido