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Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Wijaya, Yogik Onky Silvana; Ar Rohmah, Mawaddah; Niba, Emma Tabe Eko; Morisada, Naoya; Noguchi, Yoriko; Hidaka, Yasufumi; Ozasa, Shiro; Inoue, Takeshi; Shimazu, Tomoyuki; Takahashi, Yuya; Tozawa, Takenori; Chiyonobu, Tomohiro; Inoue, Takushi; Shiroshita, Tomoyoshi; Yokoyama, Atsushi; Okamoto, Kentaro; Awano, Hiroyuki; Takeshima, Yasuhiro; Saito, Toshio; Saito, Kayoko; Nishio, Hisahide; Shinohara, Masakazu.
Afiliação
  • Wijaya YOS; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: yogik.onky@gmail.com.
  • Ar Rohmah M; Department of Neurology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia. Electronic address: mawaddah.arr@gmail.com.
  • Niba ETE; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: niba@med.kobe-u.ac.jp.
  • Morisada N; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan. Electronic address: morisada_kch@hp.pref.hyogo.jp.
  • Noguchi Y; Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan. Electronic address: ynoguchi@med.kobe-u.ac.jp.
  • Hidaka Y; Department of Pediatrics, Kitakyushu Municipal Medical Center, Kitakyushu, Japan. Electronic address: hidaka2000@gmail.com.
  • Ozasa S; Department of Pediatrics, Kumamoto University, Kumamoto, Japan. Electronic address: ozasas@kumamoto-u.ac.jp.
  • Inoue T; Department of Neonatology, Kumamoto City Hospital, Kumamoto, Japan. Electronic address: inoue.takeshi@cityhosp-kumamoto.jp.
  • Shimazu T; Department of Pediatrics, National Hospital Organization Kumamoto Saishunso Hospital, Kumamoto, Japan. Electronic address: t-shima@kg7.so-net.ne.jp.
  • Takahashi Y; Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Japan. Electronic address: yuy.takahashi@gmail.com.
  • Tozawa T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address: takenori@koto.kpu-m.ac.jp.
  • Chiyonobu T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address: chiyono@koto.kpu-m.ac.jp.
  • Inoue T; Department of Pediatrics, National Hospital Organization Okayama Medical Center, Okayama, Japan. Electronic address: takushi.1975.i@gmail.com.
  • Shiroshita T; Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan. Electronic address: sirosita@reha.kobegakuin.ac.jp.
  • Yokoyama A; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: atsushiy@kuhp.kyoto-u.ac.jp.
  • Okamoto K; Department of Pediatrics, Ehime Prefectural Imabari Hospital, Imabari, Japan. Electronic address: kentaro206@gmail.com.
  • Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: awahiro@med.kobe-u.ac.jp.
  • Takeshima Y; Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan. Electronic address: ytake@hyo-med.ac.jp.
  • Saito T; Division of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan. Electronic address: saitot@toneyama.go.jp.
  • Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address: saito.kayoko@twmu.ac.jp.
  • Nishio H; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan. Electronic address: nishio@reha.kobegakuin.ac.jp.
  • Shinohara M; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: mashino@med.kobe-u.ac.jp.
Brain Dev ; 43(7): 745-758, 2021 Aug.
Article em En | MEDLINE | ID: mdl-33892995
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Proteína 1 de Sobrevivência do Neurônio Motor Limite: Adolescent / Child / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Proteína 1 de Sobrevivência do Neurônio Motor Limite: Adolescent / Child / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article