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Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.
Shin, Jung-Won; Jung, Keun-Hwa; Lee, Soon-Tae; Moon, Jangsup; Seong, Moon-Woo; Park, Sung Sup; Lee, Sang Kun; Chu, Kon.
Afiliación
  • Shin JW; Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
  • Jung KH; Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
  • Lee ST; Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
  • Moon J; Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
  • Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
  • Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
  • Lee SK; Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
  • Chu K; Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address: stemcell.snu@gmail.com.
Auton Neurosci ; 185: 141-3, 2014 Oct.
Article en En | MEDLINE | ID: mdl-24969372
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Proteínas de Unión al GTP / Disautonomías Primarias / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies Límite: Humans / Male / Middle aged Idioma: En Revista: Auton Neurosci Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article País de afiliación: Corea del Sur
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Proteínas de Unión al GTP / Disautonomías Primarias / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies Límite: Humans / Male / Middle aged Idioma: En Revista: Auton Neurosci Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article País de afiliación: Corea del Sur