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NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Sone, Jun; Ueno, Shinji; Akagi, Akio; Miyahara, Hiroaki; Tamai, Chisato; Riku, Yuichi; Yabata, Hiroyuki; Koizumi, Ryuichi; Hattori, Tomohiro; Hirose, Hiroshi; Koyanagi, Yoshito; Kobayashi, Rei; Okada, Hisashi; Kishimoto, Yoshiyuki; Hashizume, Yoshio; Sobue, Gen; Yoshida, Mari; Iwasaki, Yasushi.
Afiliação
  • Sone J; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan. jsone@aichi-med-u.ac.jp.
  • Ueno S; Department of Neurology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan. jsone@aichi-med-u.ac.jp.
  • Akagi A; Department of Neurology, National Hospital Organization Suzuka National Hospital, 3-2-1, Kasado, Suzuka, Mie, 513-8501, Japan. jsone@aichi-med-u.ac.jp.
  • Miyahara H; Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan. jsone@aichi-med-u.ac.jp.
  • Tamai C; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.
  • Riku Y; Department of Ophthalmology, Hirosaki University Graduate School of Medicine, 5 Zaifu, Hirosaki, Aomori, 036-8562, Japan.
  • Yabata H; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
  • Koizumi R; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
  • Hattori T; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
  • Hirose H; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
  • Koyanagi Y; Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.
  • Kobayashi R; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
  • Okada H; Department of Neurology, Shiga University of Medical Science. Seta-Tsukinowa, Otsu, 520-2192, Japan.
  • Kishimoto Y; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
  • Hashizume Y; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 22-2 Seto, Kanazawa-Ku, Yokohama, Kanagawa, 236-0027, Japan.
  • Sobue G; Department of Ophthalmology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan.
  • Yoshida M; Department of Ophthalmology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan.
  • Iwasaki Y; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.
Acta Neuropathol Commun ; 11(1): 71, 2023 05 02.
Article em En | MEDLINE | ID: mdl-37131242
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Corpos de Inclusão Intranuclear / Receptor Notch2 Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2023 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: Doenças Neurodegenerativas / Corpos de Inclusão Intranuclear / Receptor Notch2 Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão