Your browser doesn't support javascript.
loading
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume, Kodai; Morino, Hiroyuki; Miyamoto, Ryosuke; Matsuda, Yukiko; Ohsawa, Ryosuke; Kanaya, Yuhei; Tada, Yui; Kurashige, Takashi; Kawakami, Hideshi.
Affiliation
  • Kume K; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Morino H; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan. morino@hiroshima-u.ac.jp.
  • Miyamoto R; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-0042, Japan.
  • Matsuda Y; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Ohsawa R; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Kanaya Y; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Tada Y; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Kurashige T; Department of Neurology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, 3-1 Aoyama-cho, Kure, 737-0023, Japan.
  • Kawakami H; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
BMC Med Genet ; 21(1): 68, 2020 03 31.
Article in En | MEDLINE | ID: mdl-32234020
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / DNA Helicases / Mitochondrial Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Middle aged Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Japan
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / DNA Helicases / Mitochondrial Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Middle aged Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Japan