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Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Peeters, Kristien; Palaima, Paulius; Pelayo-Negro, Ana L; García, Antonio; Gallardo, Elena; García-Barredo, Rosario; Mateiu, Ligia; Baets, Jonathan; Menten, Björn; De Vriendt, Els; De Jonghe, Peter; Timmerman, Vincent; Infante, Jon; Berciano, José; Jordanova, Albena.
Afiliação
  • Peeters K; VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Palaima P; VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Pelayo-Negro AL; Departments of Neurology, University Hospital, University of Cantabria, and Center for Biomedical Research in the Neurodegenerative Diseases Network, Santander, Spain.
  • García A; Clinical Neurophysiology, University Hospital, University of Cantabria, and Center for Biomedical Research in the Neurodegenerative Diseases Network, Santander, Spain.
  • Gallardo E; Radiology, University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria, and Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Santander, Spain.
  • García-Barredo R; Radiology, University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria, and Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Santander, Spain.
  • Mateiu L; VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Baets J; VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Menten B; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • De Vriendt E; Born-Bunge Institute, University of Antwerp, Antwerp, Belgium.
  • De Jonghe P; Born-Bunge Institute, University of Antwerp, Antwerp, Belgium.
  • Timmerman V; VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Infante J; VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Berciano J; VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Jordanova A; Departments of Neurology, University Hospital, University of Cantabria, and Center for Biomedical Research in the Neurodegenerative Diseases Network, Santander, Spain.
Ann Neurol ; 80(6): 823-833, 2016 12.
Article em En | MEDLINE | ID: mdl-27686364
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Receptores do Fator de Necrose Tumoral / Ubiquitina-Proteína Ligases / Complexos Endossomais de Distribuição Requeridos para Transporte Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Receptores do Fator de Necrose Tumoral / Ubiquitina-Proteína Ligases / Complexos Endossomais de Distribuição Requeridos para Transporte Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Bélgica