Your browser doesn't support javascript.
loading
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Suriyanarayanan, Saranya; Auranen, Mari; Toppila, Jussi; Paetau, Anders; Shcherbii, Maria; Palin, Eino; Wei, Yu; Lohioja, Tarja; Schlotter-Weigel, Beate; Schön, Ulrike; Abicht, Angela; Rautenstrauss, Bernd; Tyynismaa, Henna; Walter, Maggie C; Hornemann, Thorsten; Ylikallio, Emil.
Afiliación
  • Suriyanarayanan S; Institute for Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Auranen M; Competence Center for Personalized Medicine (CC-PM), Zurich, Switzerland.
  • Toppila J; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
  • Paetau A; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Shcherbii M; Department of Clinical Neurophysiology, Medical Imaging Center, Helsinki University Central Hospital, Helsinki, Finland.
  • Palin E; Department of Pathology, HUSLAB, University of Helsinki, Helsinki, Finland.
  • Wei Y; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
  • Lohioja T; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
  • Schlotter-Weigel B; Institute for Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Schön U; Neurocenter, Kuopio University Hospital, Kuopio, Finland.
  • Abicht A; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
  • Rautenstrauss B; Medical Genetics Centre, Munich, Germany.
  • Tyynismaa H; Medical Genetics Centre, Munich, Germany.
  • Walter MC; Medical Genetics Centre, Munich, Germany.
  • Hornemann T; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
  • Ylikallio E; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
Neuromolecular Med ; 18(1): 81-90, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26573920
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neuropatías Hereditarias Sensoriales y Autónomas / Mutación Missense / Serina C-Palmitoiltransferasa / Enfermedades de Inicio Tardío Tipo de estudio: Etiology_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Neuromolecular Med Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Suiza
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neuropatías Hereditarias Sensoriales y Autónomas / Mutación Missense / Serina C-Palmitoiltransferasa / Enfermedades de Inicio Tardío Tipo de estudio: Etiology_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Neuromolecular Med Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Suiza