Your browser doesn't support javascript.
loading
Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Miura, Takeshi; Mezaki, Naomi; Konno, Takuya; Iwasaki, Akio; Hara, Naoyuki; Miura, Masatomo; Funayama, Michitaka; Unai, Yuki; Tashiro, Yuichi; Okita, Kenji; Kihara, Takeshi; Ito, Nobuo; Kanatsuka, Yoichi; Jones, David T; Hara, Norikazu; Ishiguro, Takanobu; Tokutake, Takayoshi; Kasuga, Kensaku; Nozaki, Hiroaki; Dickson, Dennis W; Onodera, Osamu; Wszolek, Zbigniew K; Ikeuchi, Takeshi.
Afiliação
  • Miura T; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Mezaki N; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Konno T; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Iwasaki A; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Hara N; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Miura M; Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
  • Funayama M; Department of Neurology, Dokkyo Medical University, 880 Kitakobayashi, Mibu-machi, Shimotsuga, 321-0293, Japan.
  • Unai Y; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Science, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
  • Tashiro Y; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo,Chuo-ku, Kumamoto, 860-8555, Japan.
  • Okita K; Department of Neuropsychiatry, Ashikaga Red Cross Hospital, 284-1 Yobe, Ashikaga, 326-0843, Japan.
  • Kihara T; Department of Neurology, Sumitomo Hospital, 5-3-20 Nakanoshima, Kita-ku, Osaka, 530-0005, Japan.
  • Ito N; Department of Neurology, National Hospital Organization Mito Medical Center, 280 Sakuranosato, Ibarakimachi, Higashiibaraki, 311-3193, Japan.
  • Kanatsuka Y; Department of Neurology, Nagoya City University Graduate School of Medical Sciences, Kawasumi 1-40, Mizuho-ku, Nagoya, 467-8601, Japan.
  • Jones DT; Department of Neurology, Rakuwakai Otowa Rehabilitation Hospital, 32-1 Koyamakitamizocho, Yamashina-ku, Kyoto, 607-8113, Japan.
  • Hara N; Department of Neurology, Suzuka General Hospital, 1275-53 Yamanohana, Yasuzukacho, Suzuka, 513-8630, Japan.
  • Ishiguro T; Department of Neurology, Yokohama Municipal Citizen's Hospital, 56 Okazawacho, Hodogaya-ku, Yokohama, 240-8555, Japan.
  • Tokutake T; Department of Neurology, Mayo Clinic, 200 First Street S.W., Rochester, MN, 55905, USA.
  • Kasuga K; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Nozaki H; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Dickson DW; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Onodera O; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Wszolek ZK; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • Ikeuchi T; Graduate School of Health Sciences, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
J Neurol ; 265(10): 2415-2424, 2018 Oct.
Article em En | MEDLINE | ID: mdl-30136118
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos / Mutação de Sentido Incorreto / Leucoencefalopatias Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos / Mutação de Sentido Incorreto / Leucoencefalopatias Idioma: En Ano de publicação: 2018 Tipo de documento: Article