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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Sainio, Markus T; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna.
Afiliación
  • Sainio MT; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Välipakka S; Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Rinaldi B; Department of Molecular and Cellular Genetics, CNRS, GMGM-UMR7156, Université de Strasbourg, Strasbourg, France.
  • Lapatto H; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Paetau A; Department of Pathology, HUSLAB and University of Helsinki, Helsinki, Finland.
  • Ojanen S; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Brilhante V; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Jokela M; Division of Clinical Neurosciences, Turku University Hospital, University of Turku, Turku, Finland.
  • Huovinen S; Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Tampere, Finland.
  • Auranen M; Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland.
  • Palmio J; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Friant S; Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Tampere, Finland.
  • Ylikallio E; Department of Molecular and Cellular Genetics, CNRS, GMGM-UMR7156, Université de Strasbourg, Strasbourg, France.
  • Udd B; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Tyynismaa H; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
J Neurol ; 266(2): 353-360, 2019 Feb.
Article en En | MEDLINE | ID: mdl-30515627
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas / Distrofia Muscular de Cinturas Límite: Aged / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Neurol Año: 2019 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas / Distrofia Muscular de Cinturas Límite: Aged / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Neurol Año: 2019 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Alemania