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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban, Viorica; Patel, Nisha; Vandrovcova, Jana; Zanetti, M Natalia; Lynch, David S; Ryten, Mina; Botía, Juan A; Bello, Oscar; Tribollet, Eloise; Efthymiou, Stephanie; Davagnanam, Indran; Bashiri, Fahad A; Wood, Nicholas W; Rothman, James E; Alkuraya, Fowzan S; Houlden, Henry.
Afiliación
  • Chelban V; Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Toma Ciorba 1, 2052 Chisinau, Republic of Moldova. Electronic address: v.chelban@ucl.ac.uk.
  • Patel N; Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, PO Box 3354, Riyadh 11211 Saudi Arabia.
  • Vandrovcova J; Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK.
  • Zanetti MN; Department of Clinical and Experimental Epilepsy, University College London, London WC1N 3BG, UK.
  • Lynch DS; Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK.
  • Ryten M; Reta Lila Weston Research Laboratories, Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, SE1 9RT London, UK.
  • Botía JA; Reta Lila Weston Research Laboratories, Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100 Murcia, Spain.
  • Bello O; Department of Clinical and Experimental Epilepsy, University College London, London WC1N 3BG, UK.
  • Tribollet E; Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK.
  • Efthymiou S; Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK.
  • Davagnanam I; Department of Brain Repair and Rehabilitation, University College London, London WC1N 3BG, UK.
  • Bashiri FA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11451, Saudi Arabia.
  • Wood NW; Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
  • Rothman JE; Department of Clinical and Experimental Epilepsy, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale School of Medicine, New Haven, CT 06520-8002.
  • Alkuraya FS; Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, PO Box 3354, Riyadh 11211 Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abd
  • Houlden H; Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Am J Hum Genet ; 100(6): 969-977, 2017 Jun 01.
Article en En | MEDLINE | ID: mdl-28575651
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Atrofia Óptica / Antiportadores / Proteínas de Homeodominio / Ataxias Espinocerebelosas / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Enfermedades Mitocondriales / Sistemas de Transporte de Aminoácidos Acídicos / Discapacidad Intelectual / Espasticidad Muscular Límite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Atrofia Óptica / Antiportadores / Proteínas de Homeodominio / Ataxias Espinocerebelosas / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Enfermedades Mitocondriales / Sistemas de Transporte de Aminoácidos Acídicos / Discapacidad Intelectual / Espasticidad Muscular Límite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article