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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Farhan, Sali M K; Nixon, Kevin C J; Everest, Michelle; Edwards, Tara N; Long, Shirley; Segal, Dmitri; Knip, Maria J; Arts, Heleen H; Chakrabarti, Rana; Wang, Jian; Robinson, John F; Lee, Donald; Mirsattari, Seyed M; Rupar, C Anthony; Siu, Victoria M; Poulter, Michael O; Hegele, Robert A; Kramer, Jamie M.
Afiliación
  • Farhan SMK; Molecular Medicine Research Group, Robarts Research Institute, London, ON, Canada, N6A 5B7.
  • Nixon KCJ; Department of Biochemistry.
  • Everest M; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
  • Edwards TN; Molecular Medicine Research Group, Robarts Research Institute, London, ON, Canada, N6A 5B7.
  • Long S; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
  • Segal D; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
  • Knip MJ; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
  • Arts HH; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
  • Chakrabarti R; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
  • Wang J; Molecular Medicine Research Group, Robarts Research Institute, London, ON, Canada, N6A 5B7.
  • Robinson JF; Division of Genetics and Development, Children's Health Research Institute, London, ON, Canada, N6A 5W9.
  • Lee D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre Nijmegen, The Netherlands.
  • Mirsattari SM; Division of Genetics and Development, Children's Health Research Institute, London, ON, Canada, N6A 5W9.
  • Rupar CA; Department of Pediatrics.
  • Siu VM; Molecular Medicine Research Group, Robarts Research Institute, London, ON, Canada, N6A 5B7.
  • Poulter MO; Department of Medical Imaging.
  • Hegele RA; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
  • Kramer JM; Departments of Clinical Neurological Sciences, Medical Biophysics, Medical Imaging and Psychology.
Hum Mol Genet ; 26(21): 4278-4289, 2017 11 01.
Article en En | MEDLINE | ID: mdl-28973161

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Portadoras / Heterotopia Nodular Periventricular / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2017 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Portadoras / Heterotopia Nodular Periventricular / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2017 Tipo del documento: Article