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A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.
Ciosi, Marc; Maxwell, Alastair; Cumming, Sarah A; Hensman Moss, Davina J; Alshammari, Asma M; Flower, Michael D; Durr, Alexandra; Leavitt, Blair R; Roos, Raymund A C; Holmans, Peter; Jones, Lesley; Langbehn, Douglas R; Kwak, Seung; Tabrizi, Sarah J; Monckton, Darren G.
Afiliação
  • Ciosi M; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
  • Maxwell A; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
  • Cumming SA; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
  • Hensman Moss DJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK.
  • Alshammari AM; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
  • Flower MD; Huntington's Disease Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK.
  • Durr A; APHP Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France; ICM, Institut du Cerveau et de la Moelle, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.
  • Leavitt BR; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.
  • Roos RAC; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.
  • Holmans P; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.
  • Jones L; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.
  • Langbehn DR; Departments of Psychiatry and Biostatistics, University of Iowa, Iowa City, IA, USA.
  • Kwak S; CHDI Management/CHDI Foundation, Princeton, NJ, USA.
  • Tabrizi SJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK; UK Dementia Research Institute at UCL, London, UK.
  • Monckton DG; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK. Electronic address: darren.monckton@glasgow.ac.uk.
EBioMedicine ; 48: 568-580, 2019 Oct.
Article em En | MEDLINE | ID: mdl-31607598
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Huntington / Expansão das Repetições de Trinucleotídeos / Predisposição Genética para Doença / Reparo do DNA / Proteína Huntingtina Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Huntington / Expansão das Repetições de Trinucleotídeos / Predisposição Genética para Doença / Reparo do DNA / Proteína Huntingtina Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article