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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura, Hiroyuki; Shibata, Shota; Yoshimura, Jun; Suzuki, Yuta; Qu, Wei; Doi, Koichiro; Almansour, M Asem; Kikuchi, Junko Kanda; Taira, Makiko; Mitsui, Jun; Takahashi, Yuji; Ichikawa, Yaeko; Mano, Tatsuo; Iwata, Atsushi; Harigaya, Yasuo; Matsukawa, Miho Kawabe; Matsukawa, Takashi; Tanaka, Masaki; Shirota, Yuichiro; Ohtomo, Ryo; Kowa, Hisatomo; Date, Hidetoshi; Mitsue, Aki; Hatsuta, Hiroyuki; Morimoto, Satoru; Murayama, Shigeo; Shiio, Yasushi; Saito, Yuko; Mitsutake, Akihiko; Kawai, Mizuho; Sasaki, Takuya; Sugiyama, Yusuke; Hamada, Masashi; Ohtomo, Gaku; Terao, Yasuo; Nakazato, Yoshihiko; Takeda, Akitoshi; Sakiyama, Yoshio; Umeda-Kameyama, Yumi; Shinmi, Jun; Ogata, Katsuhisa; Kohno, Yutaka; Lim, Shen-Yang; Tan, Ai Huey; Shimizu, Jun; Goto, Jun; Nishino, Ichizo; Toda, Tatsushi; Morishita, Shinichi; Tsuji, Shoji.
Afiliação
  • Ishiura H; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Shibata S; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Yoshimura J; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Suzuki Y; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Qu W; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Doi K; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Almansour MA; School of Bioscience and Biotechnology, Tokyo University of Technology, Tokyo, Japan.
  • Kikuchi JK; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Taira M; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Mitsui J; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Takahashi Y; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
  • Ichikawa Y; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Mano T; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Iwata A; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Harigaya Y; Department of Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Matsukawa MK; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Matsukawa T; Department of Neurology, Kyorin University, Tokyo, Japan.
  • Tanaka M; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Shirota Y; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Ohtomo R; Department of Neurology, Maebashi Red Cross Hospital, Maebashi, Japan.
  • Kowa H; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Date H; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Mitsue A; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Hatsuta H; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Morimoto S; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.
  • Murayama S; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Shiio Y; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Saito Y; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Mitsutake A; Department of Rehabilitation Science, Kobe University Graduate School of Health Sciences, Kobe, Japan.
  • Kawai M; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Sasaki T; Department of Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Sugiyama Y; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Hamada M; Department of Neurology and Neuropathology (the Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.
  • Ohtomo G; Department of Neurology, Osaka City University Graduate School of Medicine, Osaka, Japan.
  • Terao Y; Department of Neurology and Neuropathology (the Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.
  • Nakazato Y; Department of Neurology and Neuropathology (the Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.
  • Takeda A; Department of Neurology, Tokyo Teishin Hospital, Tokyo, Japan.
  • Sakiyama Y; Department of Pathology and Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Umeda-Kameyama Y; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Shinmi J; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Ogata K; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Kohno Y; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Lim SY; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Tan AH; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Shimizu J; Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
  • Goto J; Department of Cell Physiology, Kyorin University School of Medicine, Tokyo, Japan.
  • Nishino I; Department of Neurology, Saitama Medical University, Saitama, Japan.
  • Toda T; Department of Neurology, Osaka City University Graduate School of Medicine, Osaka, Japan.
  • Morishita S; Department of Neurology, Jichi Medical University, Saitama Medical Center, Saitama, Japan.
  • Tsuji S; Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Nat Genet ; 51(8): 1222-1232, 2019 08.
Article em En | MEDLINE | ID: mdl-31332380
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Tremor / Encéfalo / Marcadores Genéticos / Doenças Neurodegenerativas / Expansão das Repetições de Trinucleotídeos / Sequenciamento de Nucleotídeos em Larga Escala / Síndrome do Cromossomo X Frágil / Distrofias Musculares Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Tremor / Encéfalo / Marcadores Genéticos / Doenças Neurodegenerativas / Expansão das Repetições de Trinucleotídeos / Sequenciamento de Nucleotídeos em Larga Escala / Síndrome do Cromossomo X Frágil / Distrofias Musculares Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article