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A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
Gami, Priya; Murray, Christina; Schottlaender, Lucia; Bettencourt, Conceição; De Pablo Fernandez, Eduardo; Mudanohwo, Ese; Mizielinska, Sarah; Polke, James M; Holton, Janice L; Isaacs, Adrian M; Houlden, Henry; Revesz, Tamas; Lashley, Tammaryn.
Afiliação
  • Gami P; Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
  • Murray C; Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
  • Schottlaender L; Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • Bettencourt C; Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • De Pablo Fernandez E; Reta Lila Weston Institute for Neurological Studies, UCL Institute of Neurology, London, WC1N 1PJ, UK.
  • Mudanohwo E; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
  • Mizielinska S; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • Polke JM; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
  • Holton JL; Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
  • Isaacs AM; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • Revesz T; Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
  • Lashley T; Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK. T.Lashley@ucl.ac.uk.
Acta Neuropathol ; 130(4): 599-601, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26347457

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas / Expansão das Repetições de DNA / Proteínas de Ligação a DNA Limite: Aged / Aged80 / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas / Expansão das Repetições de DNA / Proteínas de Ligação a DNA Limite: Aged / Aged80 / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2015 Tipo de documento: Article