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Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
Hori, Ikumi; Ieda, Daisuke; Ito, Shogo; Ebe, Seimi; Nakamura, Yuji; Ohashi, Kei; Aoyama, Kohei; Hattori, Ayako; Kokubo, Minoru; Saitoh, Shinji.
Afiliação
  • Hori I; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan; Department of Pediatrics, Aichi Prefectural Welfare Federation of Agricultural Cooperatives Kainan Hospital, Japan.
  • Ieda D; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Ito S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Ebe S; Department of Pediatrics, Aichi Prefectural Welfare Federation of Agricultural Cooperatives Kainan Hospital, Japan.
  • Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Ohashi K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Aoyama K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Hattori A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
  • Kokubo M; Department of Pediatrics, Aichi Prefectural Welfare Federation of Agricultural Cooperatives Kainan Hospital, Japan.
  • Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan. Electronic address: ss11@med.nagoya-cu.ac.jp.
Brain Dev ; 43(4): 590-595, 2021 Apr.
Article em En | MEDLINE | ID: mdl-33402283

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervos Periféricos / Deficiências do Desenvolvimento / Citocinas / Proteínas de Ligação a RNA / Códon sem Sentido / Leucoencefalopatias / Espasticidade Muscular / Proteínas de Neoplasias Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervos Periféricos / Deficiências do Desenvolvimento / Citocinas / Proteínas de Ligação a RNA / Códon sem Sentido / Leucoencefalopatias / Espasticidade Muscular / Proteínas de Neoplasias Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article