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Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara, Masanori; Ishiura, Hiroyuki; Sasaki, Takuya; Otsuka, Juuri; Hayashi, Toshihiro; Terao, Yasuo; Matsukawa, Takashi; Mitsui, Jun; Kaneko, Juntaro; Nishiyama, Kazutoshi; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Shimizu, Jun; Tsuji, Shoji.
Afiliação
  • Kurihara M; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Ishiura H; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan. ishiura-tky@umin.org.
  • Sasaki T; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Otsuka J; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Hayashi T; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Terao Y; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Matsukawa T; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Mitsui J; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Kaneko J; Department of Neurology, Kitasato University School of Medicine, Sagamihara, Japan.
  • Nishiyama K; Department of Neurology, Kitasato University School of Medicine, Sagamihara, Japan.
  • Doi K; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Yoshimura J; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Morishita S; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Shimizu J; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
  • Tsuji S; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Cerebellum ; 17(2): 237-242, 2018 Apr.
Article em En | MEDLINE | ID: mdl-28895081
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Distonia / Canais de Potássio Shal / Deficiência Intelectual / Mutação / Mioclonia Tipo de estudo: Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2018 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: Ataxia Cerebelar / Distonia / Canais de Potássio Shal / Deficiência Intelectual / Mutação / Mioclonia Tipo de estudo: Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão