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PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Mizuguchi, Takeshi; Nakashima, Mitsuko; Kato, Mitsuhiro; Yamada, Keitaro; Okanishi, Tohru; Ekhilevitch, Nina; Mandel, Hanna; Eran, Ayelet; Toyono, Miyuki; Sawaishi, Yukio; Motoi, Hirotaka; Shiina, Masaaki; Ogata, Kazuhiro; Miyatake, Satoko; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi.
Afiliação
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Yamada K; Division of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Aichi, Japan.
  • Okanishi T; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
  • Ekhilevitch N; The Genetics Institute and Metabolic Unit, Rambam Health Care Campus, Haifa, Israel.
  • Mandel H; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Eran A; The Genetics Institute and Metabolic Unit, Rambam Health Care Campus, Haifa, Israel.
  • Toyono M; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Sawaishi Y; Department of Radiology, Rambam Health Care Campus, Haifa, Israel.
  • Motoi H; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan.
  • Shiina M; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan.
  • Ogata K; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
  • Miyatake S; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
J Hum Genet ; 62(5): 525-529, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28077841
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-tRNA Ligase / Doenças Neurodegenerativas / Aminoacil-tRNA Sintetases / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-tRNA Ligase / Doenças Neurodegenerativas / Aminoacil-tRNA Sintetases / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Ano de publicação: 2017 Tipo de documento: Article