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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa, Shinya; Yanagi, Kumiko; Kikuchi, Atsuo; Kobayashi, Yasuko; Haginoya, Kazuhiro; Matsumoto, Hiroshi; Kurosawa, Kenji; Ochiai, Masayuki; Sakai, Yasunari; Fujita, Atsushi; Miyake, Noriko; Niihori, Tetsuya; Shirota, Matsuyuki; Funayama, Ryo; Nonoyama, Shigeaki; Ohga, Shouichi; Kawame, Hiroshi; Nakayama, Keiko; Aoki, Yoko; Matsumoto, Naomichi; Kaname, Tadashi; Matsubara, Yoichi; Shoji, Wataru; Kure, Shigeo.
Afiliação
  • Iwasawa S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Yanagi K; National Center for Child Health and Development, Tokyo, Japan.
  • Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kobayashi Y; Department of Pediatrics, National Hospital Organization Sendai-Nishitaga Hospital, Sendai, Japan.
  • Haginoya K; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
  • Matsumoto H; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
  • Kurosawa K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Ochiai M; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
  • Sakai Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Fujita A; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Miyake N; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Niihori T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Shirota M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Funayama R; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Nonoyama S; Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Ohga S; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kawame H; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
  • Nakayama K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Aoki Y; Tohoku Medical Megabank organization, Tohoku University, Sendai, Japan.
  • Matsumoto N; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kaname T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Matsubara Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Shoji W; National Center for Child Health and Development, Tokyo, Japan.
  • Kure S; National Center for Child Health and Development, Tokyo, Japan.
Ann Neurol ; 85(6): 927-933, 2019 06.
Article em En | MEDLINE | ID: mdl-30945334
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Proteínas Adaptadoras de Transdução de Sinal / Proteínas do Tecido Nervoso / Doenças do Sistema Nervoso Limite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Proteínas Adaptadoras de Transdução de Sinal / Proteínas do Tecido Nervoso / Doenças do Sistema Nervoso Limite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão