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Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Fratta, Pietro; Polke, James M; Newcombe, Jia; Mizielinska, Sarah; Lashley, Tammaryn; Poulter, Mark; Beck, Jon; Preza, Elisavet; Devoy, Anny; Sidle, Katie; Howard, Robin; Malaspina, Andrea; Orrell, Richard W; Clarke, Jan; Lu, Ching-Hua; Mok, Kin; Collins, Toby; Shoaii, Maryam; Nanji, Tina; Wray, Selina; Adamson, Gary; Pittman, Alan; Renton, Alan E; Traynor, Bryan J; Sweeney, Mary G; Revesz, Tamas; Houlden, Henry; Mead, Simon; Isaacs, Adrian M; Fisher, Elizabeth M C.
Afiliación
  • Fratta P; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, University College London, Queen Square, London, UK. Electronic address: p.fratta@ucl.ac.uk.
  • Polke JM; Neurogenetics Unit, Queen Square, London, UK. Electronic address: James.Polke@uclh.nhs.uk.
  • Newcombe J; NeuroResource, Institute of Neurology, University College London, Queen Square, London, UK.
  • Mizielinska S; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK.
  • Lashley T; Queen Square Brain Bank for Neurological Disorders, University College London, Queen Square, London, UK.
  • Poulter M; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK; MRC Prion Unit, University College London, Queen Square, London, UK.
  • Beck J; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK; MRC Prion Unit, University College London, Queen Square, London, UK.
  • Preza E; Department of Molecular Neuroscience, University College London, Queen Square, London, UK.
  • Devoy A; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK.
  • Sidle K; Department of Molecular Neuroscience, University College London, Queen Square, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Howard R; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Malaspina A; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Centre for Neuroscience & Trauma, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.
  • Orrell RW; MRC Centre for Neuromuscular Diseases, University College London, Queen Square, London, UK; Department of Molecular Neuroscience, University College London, Queen Square, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Clarke J; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Lu CH; Centre for Neuroscience & Trauma, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK; Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Queen Square, London, UK.
  • Mok K; Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Queen Square, London, UK.
  • Collins T; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK.
  • Shoaii M; Department of Molecular Neuroscience, University College London, Queen Square, London, UK.
  • Nanji T; Neurogenetics Unit, Queen Square, London, UK.
  • Wray S; Department of Molecular Neuroscience, University College London, Queen Square, London, UK.
  • Adamson G; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK; MRC Prion Unit, University College London, Queen Square, London, UK.
  • Pittman A; Department of Molecular Neuroscience, University College London, Queen Square, London, UK.
  • Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institutes of Health, National Institute on Aging, Bethesda, MD, USA.
  • Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institutes of Health, National Institute on Aging, Bethesda, MD, USA.
  • Sweeney MG; Neurogenetics Unit, Queen Square, London, UK.
  • Revesz T; Queen Square Brain Bank for Neurological Disorders, University College London, Queen Square, London, UK.
  • Houlden H; Neurogenetics Unit, Queen Square, London, UK; Department of Molecular Neuroscience, University College London, Queen Square, London, UK.
  • Mead S; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK.
  • Isaacs AM; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK.
  • Fisher EM; Department of Neurodegenerative Disease, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, University College London, Queen Square, London, UK. Electronic address: e.fisher@prion.ucl.ac.uk.
Neurobiol Aging ; 36(1): 546.e1-7, 2015 Jan.
Article en En | MEDLINE | ID: mdl-25179228

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas / Estudios de Cohortes / Expansión de las Repeticiones de ADN / Esclerosis Amiotrófica Lateral Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Neurobiol Aging Año: 2015 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas / Estudios de Cohortes / Expansión de las Repeticiones de ADN / Esclerosis Amiotrófica Lateral Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Neurobiol Aging Año: 2015 Tipo del documento: Article