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CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
Abdelkarim, Samir; Morgan, Sarah; Plagnol, Vincent; Lu, Ching-Hua; Adamson, Gary; Howard, Robin; Malaspina, Andrea; Orrell, Richard; Sharma, Nikhil; Sidle, Katie; Clarke, Jan; Fox, Nick C; Rossor, Martin N; Warren, Jason D; Clark, Camilla N; Rohrer, Jonathan D; Fisher, Elizabeth M C; Mead, Simon; Pittman, Alan; Fratta, Pietro.
Afiliação
  • Abdelkarim S; 1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Morgan S; 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Plagnol V; 3 UCL Genetics Institute, Department of Genetics, Environment and Evolution, UCL, London WC1E 6BT, UK.
  • Lu CH; 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK 5 Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, North-East London and Essex Regional MND Care Centre, E1 2AT, UK.
  • Adamson G; 6 Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Howard R; 7 National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
  • Malaspina A; 5 Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, North-East London and Essex Regional MND Care Centre, E1 2AT, UK.
  • Orrell R; 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Sharma N; 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK.
  • Sidle K; 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Clarke J; 7 National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
  • Fox NC; 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Rossor MN; 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Warren JD; 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Clark CN; 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Rohrer JD; 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Fisher EM; 1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Mead S; 6 Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Pittman A; 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Fratta P; 1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK p.fratta@ucl.ac.uk.
Brain ; 139(Pt 2): e9, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26362910
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Penetrância / Proteínas Mitocondriais / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Penetrância / Proteínas Mitocondriais / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article