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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Savarese, Marco; Palmio, Johanna; Poza, Juan José; Weinberg, Jan; Olive, Montse; Cobo, Ana Maria; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; García-Bragado, Federico; Urtizberea, Jon Andoni; Hackman, Peter; Udd, Bjarne.
Afiliação
  • Savarese M; Folkhälsan Research Center, Helsinki, Finland.
  • Palmio J; Medicum, University of Helsinki, Helsinki, Finland.
  • Poza JJ; Neuromuscular Research Center, Tampere University Hospital and Tampere University, Tampere, Finland.
  • Weinberg J; Department of Neurology, Donostia University Hospital, San Sebastián, Spain.
  • Olive M; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Cobo AM; Department of Pathology, Neuropathology and Neuromuscular Unit, Biomedical Research Institute of Bellvitge, Bellvitge University Hospital, Hospitalet de Llobregat, Spain.
  • Vihola A; Neuromuscular Diseases Center of Competence, Marin Hospital, Public Hospital Network of Paris, Hendaye, France.
  • Jonson PH; Folkhälsan Research Center, Helsinki, Finland.
  • Sarparanta J; Medicum, University of Helsinki, Helsinki, Finland.
  • García-Bragado F; Folkhälsan Research Center, Helsinki, Finland.
  • Urtizberea JA; Medicum, University of Helsinki, Helsinki, Finland.
  • Hackman P; Folkhälsan Research Center, Helsinki, Finland.
  • Udd B; Medicum, University of Helsinki, Helsinki, Finland.
Ann Neurol ; 85(6): 899-906, 2019 06.
Article em En | MEDLINE | ID: mdl-30900782
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Actinina / Mutação de Sentido Incorreto / Miopatias Distais / Genes Dominantes Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Finlândia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Actinina / Mutação de Sentido Incorreto / Miopatias Distais / Genes Dominantes Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Finlândia