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Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
Den, Kouhei; Kudo, Yosuke; Kato, Mitsuhiro; Watanabe, Kosuke; Doi, Hiroshi; Tanaka, Fumiaki; Oguni, Hirokazu; Miyatake, Satoko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Mitsuhashi, Satomi; Matsumoto, Naomichi.
Afiliação
  • Den K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, 236-0004, Japan.
  • Kudo Y; Department of Neurology, Yokohama Brain and Spine Center, Yokohama, 235-0012, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8555, Japan.
  • Watanabe K; Department of Neurology, Yokohama Brain and Spine Center, Yokohama, 235-0012, Japan.
  • Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • Oguni H; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, 236-0004, Japan.
  • Mizuguchi T; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, 236-0004, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama, 236-0004, Japan.
BMC Neurol ; 19(1): 253, 2019 Oct 27.
Article em En | MEDLINE | ID: mdl-31656175
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Escoliose / Receptores de Superfície Celular / Epilepsia / Mioclonia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA 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 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Escoliose / Receptores de Superfície Celular / Epilepsia / Mioclonia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão