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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D'Gama, Alissa M; Woodworth, Mollie B; Hossain, Amer A; Bizzotto, Sara; Hatem, Nicole E; LaCoursiere, Christopher M; Najm, Imad; Ying, Zhong; Yang, Edward; Barkovich, A James; Kwiatkowski, David J; Vinters, Harry V; Madsen, Joseph R; Mathern, Gary W; Blümcke, Ingmar; Poduri, Annapurna; Walsh, Christopher A.
  • D'Gama AM; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 0214
  • Woodworth MB; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 0214
  • Hossain AA; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 0214
  • Bizzotto S; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 0214
  • Hatem NE; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 0214
  • LaCoursiere CM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Najm I; Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.
  • Ying Z; Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.
  • Yang E; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Radiology, Harvard Medical School, Boston, MA 02115, USA.
  • Barkovich AJ; Departments of Radiology and Diagnostic Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Kwiatkowski DJ; Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Vinters HV; Departments of Pathology and Laboratory Medicine (Neuropathology) and Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
  • Madsen JR; Department of Neurosurgery, Boston Children's Hospital, Boston, MA, USA.
  • Mathern GW; Departments of Neurosurgery and Psychiatry and Biobehavioral Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Blümcke I; Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Neuropathology, University Hospital Erlangen, Schwabachanlage 6, 91054 Erlangen, Germany.
  • Poduri A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 0214
Cell Rep ; 21(13): 3754-3766, 2017 12 26.
Article en En | MEDLINE | ID: mdl-29281825
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Madre / Telencéfalo / Transducción de Señal / Malformaciones del Desarrollo Cortical / Serina-Treonina Quinasas TOR / Mutación Límite: Animals / Humans Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Madre / Telencéfalo / Transducción de Señal / Malformaciones del Desarrollo Cortical / Serina-Treonina Quinasas TOR / Mutación Límite: Animals / Humans Idioma: En Año: 2017 Tipo del documento: Article