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TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.
Ikeda, Toshio; Nakahara, Akihiko; Nagano, Rie; Utoyama, Maiko; Obara, Megumi; Moritake, Hiroshi; Uechi, Tamayo; Mitsui, Jun; Ishiura, Hiroyuki; Yoshimura, Jun; Doi, Koichiro; Kenmochi, Naoya; Morishita, Shinichi; Nishino, Ichizo; Tsuji, Shoji; Nunoi, Hiroyuki.
Afiliación
  • Ikeda T; Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
  • Nakahara A; Department of Pediatrics, National Hospital Organization Miyazaki Hospital, Miyazaki, Japan.
  • Nagano R; Department of Pediatrics, Aisenkai Nichinan Hospital, Miyazaki, Japan.
  • Utoyama M; Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
  • Obara M; Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
  • Moritake H; Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
  • Uechi T; Frontier Science Research Center, University of Miyazaki, Miyazaki, Japan.
  • Mitsui J; Department of Neurology, The University of Tokyo, Graduate School of Medicine, Tokyo, Japan.
  • Ishiura H; Department of Neurology, The University of Tokyo, Graduate School of Medicine, Tokyo, Japan.
  • Yoshimura J; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Doi K; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Kenmochi N; Frontier Science Research Center, University of Miyazaki, Miyazaki, Japan.
  • Morishita S; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Tsuji S; Department of Neurology, The University of Tokyo, Graduate School of Medicine, Tokyo, Japan.
  • Nunoi H; Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
J Hum Genet ; 62(4): 473-480, 2017 Apr.
Article en En | MEDLINE | ID: mdl-27928163
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas / Atrofias Musculares Espinales de la Infancia / Proteínas Asociadas a Microtúbulos Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas / Atrofias Musculares Espinales de la Infancia / Proteínas Asociadas a Microtúbulos Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido