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De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.
Ylikallio, Emil; Ritari, Niina; Sainio, Markus; Toppila, Jussi; Kivirikko, Sirpa; Tyynismaa, Henna; Auranen, Mari; Isohanni, Pirjo.
Afiliação
  • Ylikallio E; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Ritari N; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Sainio M; Neuropsychology, New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Toppila J; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Kivirikko S; Department of Clinical Neurophysiology, Medical Imaging Center, Helsinki University Central Hospital, Helsinki Finland.
  • Tyynismaa H; Department of Clinical Genetics, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
  • Auranen M; Department of Medical and Clinical Genetics, University of Helsinki, Finland.
  • Isohanni P; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Brain ; 143(12): e104, 2020 12 01.
Article em En | MEDLINE | ID: mdl-33206935
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Códon sem Sentido Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Códon sem Sentido Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article