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Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
O'Connor, Emer; Vandrovcova, Jana; Bugiardini, Enrico; Chelban, Viorica; Manole, Andreea; Davagnanam, Indran; Wiethoff, Sarah; Pittman, Alan; Lynch, David S; Efthymiou, Stephanie; Marino, Silvia; Manzur, Adnan Y; Roberts, Mark; Hanna, Michael G; Houlden, Henry; Matthews, Emma; Wood, Nicholas W.
Afiliação
  • O'Connor E; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Vandrovcova J; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Bugiardini E; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Chelban V; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Manole A; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Davagnanam I; Department of Brain Repair and Rehabilitation, Institute of Neurology, University College London, London, UK.
  • Wiethoff S; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Pittman A; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Lynch DS; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Efthymiou S; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Marino S; Department of Neuropathology, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Manzur AY; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
  • Roberts M; Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
  • Hanna MG; Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK.
  • Houlden H; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Matthews E; Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK.
  • Wood NW; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
J Neurol Neurosurg Psychiatry ; 89(11): 1230-1232, 2018 11.
Article em En | MEDLINE | ID: mdl-29472272
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Proteína 1 Complementadora Cruzada de Reparo de Raio-X / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Proteína 1 Complementadora Cruzada de Reparo de Raio-X / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article