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Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.
Pasanen, P; Myllykangas, L; Pöyhönen, M; Kiuru-Enari, S; Tienari, P J; Laaksovirta, H; Toppila, J; Ylikallio, E; Tyynismaa, H; Auranen, M.
Afiliación
  • Pasanen P; Department of Medical Biochemistry and Genetics, Institute of Biomedicine, University of Turku, Turku, Finland.
  • Myllykangas L; Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.
  • Pöyhönen M; Department of Clinical Genetics, Helsinki University Central Hospital and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Kiuru-Enari S; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Tienari PJ; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Laaksovirta H; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Toppila J; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Ylikallio E; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Tyynismaa H; Department of Clinical Neurophysiology, HUS Medical Imaging Center, Helsinki University Central Hospital, Helsinki, Finland.
  • Auranen M; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Acta Neurol Scand ; 133(5): 361-6, 2016 May.
Article en En | MEDLINE | ID: mdl-26224640
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Charcot-Marie-Tooth / Mutación Missense / Proteínas Mitocondriales Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Acta Neurol Scand Año: 2016 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Charcot-Marie-Tooth / Mutación Missense / Proteínas Mitocondriales Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Acta Neurol Scand Año: 2016 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Dinamarca