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First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing.
Miyamoto, Yosuke; Okazaki, Tetsuya; Watanabe, Keisuke; Togawa, Masami; Adachi, Tadashi; Kato, Ayumi; Ochiai, Ryoya; Tamai, Chisato; Sone, Jun; Maegaki, Yoshihiro.
Afiliação
  • Miyamoto Y; Department of Pediatrics, Kyoto Prefectural University of Medicine, 465 Kajii-cho Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, Tottori 683-8504, Japan. Ele
  • Okazaki T; Division of Clinical Genetics, Tottori University, 36-1 Nishi-Cho, Yonago, Tottori 683-8504, Japan.
  • Watanabe K; Department of Pediatrics, Akita University, Graduate School of Medicine, 44-2 Hasunuma Hiroomote, Akita, Akita 010-8543, Japan.
  • Togawa M; Department of Pediatrics, Tottori Prefectural Central Hospital, 730 Ezu, Tottori, Tottori 680-0901, Japan.
  • Adachi T; Division of Neuropathology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, Tottori 683-8504, Japan.
  • Kato A; Division of Radiology, Department of Multidisciplinary Internal Medicine, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, Tottori 683-8504, Japan; Department of Diagnostic Radiology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa 2
  • Ochiai R; Division of Radiology, Department of Multidisciplinary Internal Medicine, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, Tottori 683-8504, Japan; Department of Radiology, National Hospital Organization Hamada Medical Center, 777-12 Asai-Cho, Hamada, Shimane 697-8511, Japan.
  • Tamai C; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi 480-1195, Japan.
  • Sone J; Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi 480-1195, Japan; Department of Neurology, National Hospital Organization Suzuka National Hospital, 3-2-1 Kasado, Suzuka, Mie 513-8501, Japan.
  • Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, Tottori 683-8504, Japan.
Brain Dev ; 45(1): 70-76, 2023 Jan.
Article em En | MEDLINE | ID: mdl-36150977
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans Idioma: En Revista: Brain Dev Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans Idioma: En Revista: Brain Dev Ano de publicação: 2023 Tipo de documento: Article