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A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.
Nishii, Yo-Suke; Noto, Yu-Ichi; Yasuda, Rei; Kitaoji, Takamasa; Ashida, Shinji; Tanaka, Eijirou; Minami, Narihiro; Nishino, Ichizo; Mizuno, Toshiki.
Afiliação
  • Nishii YS; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan.
  • Noto YI; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan. y-noto@koto.kpu-m.ac.jp.
  • Yasuda R; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan.
  • Kitaoji T; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan.
  • Ashida S; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan.
  • Tanaka E; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan.
  • Minami N; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
  • Mizuno T; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-0841, Japan.
BMC Neurol ; 21(1): 265, 2021 Jul 05.
Article em En | MEDLINE | ID: mdl-34225694
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Oculofaríngea / Proteína I de Ligação a Poli(A) Tipo de estudo: Diagnostic_studies Limite: Aged / Female / Humans / Male Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Oculofaríngea / Proteína I de Ligação a Poli(A) Tipo de estudo: Diagnostic_studies Limite: Aged / Female / Humans / Male Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão