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Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion.
Zhou, Yongxing; Sood, Raman; Wang, Qun; Carrington, Blake; Park, Morgan; Young, Alice C; Birnbaum, Daniel; Liu, Zhao; Ashizawa, Tetsuo; Mullikin, James C; Koubeissi, Mohamad Z; Liu, Paul.
Afiliación
  • Zhou Y; Department of Neurology, MedStar St Mary's Hospital/Georgetown University Hospital, MedStar Medical Group, Leonardtown, MD, USA.
  • Sood R; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Wang Q; Epilepsy Center, Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
  • Carrington B; China National Clinical Research Center for Neurological Diseases, Beijing, China.
  • Park M; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Young AC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
  • Birnbaum D; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
  • Liu Z; Department of Neurology, Einstein Medical Center, Philadelphia, PA, USA.
  • Ashizawa T; Division of Pediatric Neurology, Children's Hospital of Illinois, University of Illinois College of Medicine, Chicago, IL, USA.
  • Mullikin JC; Houston Methodist Neurological Institute and Research Institute, Houston, TX, USA.
  • Koubeissi MZ; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
  • Liu P; Epilepsy Center, Department of Neurology, George Washington University, Washington, DC, USA.
Epilepsia Open ; 6(1): 102-111, 2021 03.
Article en En | MEDLINE | ID: mdl-33681653
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Linaje / Temblor / Epilepsias Mioclónicas / Genómica / Expansión de las Repeticiones de ADN / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: Epilepsia Open Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Linaje / Temblor / Epilepsias Mioclónicas / Genómica / Expansión de las Repeticiones de ADN / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: Epilepsia Open Año: 2021 Tipo del documento: Article