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A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
Olszewska, Diana A; Fearon, Conor; McGuigan, Christopher; McVeigh, Terri P; Houlden, Henry; Polke, James M; Lawlor, Brian; Coen, Robert; Hutchinson, Michael; Hutton, Michael; Beausang, Alan; Delon, Isabelle; Brett, Francesca; Sevastou, Ioanna; Seto-Salvia, Nuria; de Silva, Rohan; Lynch, Tim.
Afiliação
  • Olszewska DA; Department of Neurology, Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland.
  • Fearon C; Department of Neurology, Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland.
  • McGuigan C; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland.
  • McVeigh TP; Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Polke JM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Lawlor B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Coen R; Mercer's Institute of Aging, St James's Hospital Dublin, Ireland.
  • Hutchinson M; Mercer's Institute of Aging, St James's Hospital Dublin, Ireland.
  • Hutton M; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland.
  • Beausang A; Eli Lilly Research Laboratories, Lilly Corporate Center, Indianapolis, USA.
  • Delon I; Department of Neuropathology, Beaumont Hospital, Dublin, Ireland.
  • Brett F; East Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Addenbrooke's Treatment Centre, Hills Road, Cambridge, UK.
  • Sevastou I; Department of Neuropathology, Beaumont Hospital, Dublin, Ireland.
  • Seto-Salvia N; East Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Addenbrooke's Treatment Centre, Hills Road, Cambridge, UK.
  • de Silva R; Department of Clinical and Movement Neuroscience, Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.
  • Lynch T; Department of Neurology, Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland; Health affairs, University College Dublin, Dublin, Ireland; Ireland East Hospital Group, Dublin, Ireland. Electronic address: tlynch@dni.ie.
Neurobiol Aging ; 106: 343.e1-343.e8, 2021 10.
Article em En | MEDLINE | ID: mdl-34274155
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Íntrons / Éxons / Proteínas tau / Mutação Puntual / Transtornos Parkinsonianos / Demência Frontotemporal / Estudos de Associação Genética / Heterozigoto Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Irlanda
Texto completo
Imprimir
XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Íntrons / Éxons / Proteínas tau / Mutação Puntual / Transtornos Parkinsonianos / Demência Frontotemporal / Estudos de Associação Genética / Heterozigoto Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Irlanda