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Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.
Ishiguro, Takanobu; Konno, Takuya; Hara, Norikazu; Zhu, Bin; Okada, Satoshi; Shibata, Mamoru; Saika, Reiko; Kitano, Takaya; Toko, Megumi; Nezu, Tomohisa; Hama, Yuka; Kawazoe, Tomoya; Takahashi-Iwata, Ikuko; Yabe, Ichiro; Sato, Kota; Takeda, Hayato; Toda, Shintaro; Nishimiya, Jin; Teduka, Toshiyuki; Nozaki, Hiroaki; Kasuga, Kensaku; Miyashita, Akinori; Onodera, Osamu; Ikeuchi, Takeshi.
Afiliação
  • Ishiguro T; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Konno T; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Hara N; Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
  • Zhu B; Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
  • Okada S; Department of Neurology, Ichikawa General Hospital, Tokyo Dental College, Ichikawa, Japan.
  • Shibata M; Department of Neurology, Ichikawa General Hospital, Tokyo Dental College, Ichikawa, Japan.
  • Saika R; Department of Neurology, Osaka Red Cross Hospital, Osaka, Japan.
  • Kitano T; Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Toko M; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Nezu T; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Hama Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Kawazoe T; Department of Neurology, Tokyo Metropolitan Neurological Hospital, Fuchu, Japan.
  • Takahashi-Iwata I; Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
  • Yabe I; Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
  • Sato K; Department of Neurology, Brain Attack Center Ota Memorial Hospital, Fukuyama, Japan.
  • Takeda H; Department of Neurology, University of Tsukuba, Tsukuba, Japan.
  • Toda S; Department of Neurology, Kyoto Katsura Hospital, Katsura, Japan.
  • Nishimiya J; Department of Neurology, Gyotoku General Hospital, Ichikawa, Japan.
  • Teduka T; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Nozaki H; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Kasuga K; Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
  • Miyashita A; Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
  • Onodera O; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Ikeuchi T; Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
Eur J Neurol ; 30(7): 1861-1870, 2023 07.
Article em En | MEDLINE | ID: mdl-36943150
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de Fator Estimulador de Colônias / Mutação de Sentido Incorreto / Leucoencefalopatias Tipo de estudo: Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de Fator Estimulador de Colônias / Mutação de Sentido Incorreto / Leucoencefalopatias Tipo de estudo: Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article