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Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando, Masahiro; Hashiguchi, Akihiro; Okamoto, Yuji; Yoshimura, Akiko; Hiramatsu, Yu; Yuan, Junhui; Higuchi, Yujiro; Mitsui, Jun; Ishiura, Hiroyuki; Umemura, Ayako; Maruyama, Koichi; Matsushige, Takeshi; Morishita, Shinichi; Nakagawa, Masanori; Tsuji, Shoji; Takashima, Hiroshi.
Afiliação
  • Ando M; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Hashiguchi A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Okamoto Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Yoshimura A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Hiramatsu Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Yuan J; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Higuchi Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Mitsui J; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Umemura A; Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Aichi, Japan.
  • Maruyama K; Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Aichi, Japan.
  • Matsushige T; Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.
  • Morishita S; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Nakagawa M; Department of Neurology, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Tsuji S; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
J Peripher Nerv Syst ; 22(3): 191-199, 2017 09.
Article em En | MEDLINE | ID: mdl-28660751
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Peripher Nerv Syst Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Peripher Nerv Syst Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão