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Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura, A; Yuan, J-H; Hashiguchi, A; Hiramatsu, Y; Ando, M; Higuchi, Y; Nakamura, T; Okamoto, Y; Matsumura, K; Hamano, T; Sawaura, N; Shimatani, Y; Kumada, S; Okumura, Y; Miyahara, J; Yamaguchi, Y; Kitamura, S; Haginoya, K; Mitsui, J; Ishiura, H; Tsuji, S; Takashima, H.
Afiliação
  • Yoshimura A; Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Yuan JH; 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.
  • Hiramatsu Y; Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Ando M; 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.
  • Nakamura T; 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.
  • Matsumura K; Department of Neurology, Teikyo University, Tokyo, Japan.
  • Hamano T; Department of Neurology, Kansai Electric Power Hospital, Osaka, Japan.
  • Sawaura N; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Shimatani Y; Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan.
  • Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Okumura Y; Department of Pediatric Neurology, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Miyahara J; Department of Neurology, Tominaga Hospital, Osaka, Japan.
  • Yamaguchi Y; Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Kitamura S; Department of Neurology, Konan Hospital, Hyogo, Japan.
  • Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Miyagi, Japan.
  • Mitsui J; Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
  • Ishiura H; Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
  • Tsuji S; Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
  • Takashima H; Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Clin Genet ; 92(3): 274-280, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28244113
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Charcot-Marie-Tooth / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Charcot-Marie-Tooth / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão