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A novel gain-of-function sodium channel ß2 subunit mutation in idiopathic small fiber neuropathy.
Alsaloum, Matthew; Labau, Julie I R; Sosniak, Daniel; Zhao, Peng; Almomani, Rowida; Gerrits, Monique; Hoeijmakers, Janneke G J; Lauria, Giuseppe; Faber, Catharina G; Waxman, Stephen G; Dib-Hajj, Sulayman.
Afiliación
  • Alsaloum M; Department of Neurology, Yale University School of Medicine, New Haven, Connecticut.
  • Labau JIR; Center for Neuroscience & Regeneration Research, Yale University, West Haven, Connecticut.
  • Sosniak D; Center for Rehabilitation Research, VA Connecticut Healthcare System, West Haven, Connecticut.
  • Zhao P; Yale Medical Scientist Training Program, Yale School of Medicine, New Haven, Connecticut.
  • Almomani R; Interdepartmental Neuroscience Program, Yale School of Medicine, New Haven, Connecticut.
  • Gerrits M; Department of Neurology, Yale University School of Medicine, New Haven, Connecticut.
  • Hoeijmakers JGJ; Center for Neuroscience & Regeneration Research, Yale University, West Haven, Connecticut.
  • Lauria G; Center for Rehabilitation Research, VA Connecticut Healthcare System, West Haven, Connecticut.
  • Faber CG; Department of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, Maastricht, The Netherlands.
  • Waxman SG; Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Dib-Hajj S; Department of Neurology, Yale University School of Medicine, New Haven, Connecticut.
J Neurophysiol ; 126(3): 827-839, 2021 09 01.
Article en En | MEDLINE | ID: mdl-34320850
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Subunidad beta-2 de Canal de Sodio Activado por Voltaje / Neuropatía de Fibras Pequeñas / Mutación con Ganancia de Función Límite: Animals / Humans Idioma: En Revista: J Neurophysiol Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Subunidad beta-2 de Canal de Sodio Activado por Voltaje / Neuropatía de Fibras Pequeñas / Mutación con Ganancia de Función Límite: Animals / Humans Idioma: En Revista: J Neurophysiol Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos