DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Autor: Bettencourt C; Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Hensman-Moss D; Department of Neurodegenerative Disease, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Flower M; Department of Neurodegenerative Disease, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Wiethoff S; Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, Tübingen, Germany., Brice A; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), Paris, France.; APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, 75013 Paris, France., Goizet C; Université Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, INSERM1211, Bordeaux, France.; CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France., Stevanin G; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), Paris, France.; Ecole Pratique des Hautes Etudes, 75014 Paris, France., Koutsis G; Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 115 28 Athens, Greece., Karadima G; Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 115 28 Athens, Greece., Panas M; Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 115 28 Athens, Greece., Yescas-Gómez P; Neurogenetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez', Mexico City CP14269, Mexico., García-Velázquez LE; Neurogenetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez', Mexico City CP14269, Mexico., Alonso-Vilatela ME; Neurogenetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez', Mexico City CP14269, Mexico., Lima M; Department of Biology, University of the Azores, 9500-321 Ponta Delgada, Portugal.; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4150-180 Porto, Portugal.; Institute for Molecular and Cell Biology (IBMC), University of Porto, 4150-180 Porto, Portugal., Raposo M; Department of Biology, University of the Azores, 9500-321 Ponta Delgada, Portugal.; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4150-180 Porto, Portugal.; Institute for Molecular and Cell Biology (IBMC), University of Porto, 4150-180 Porto, Portugal., Traynor B; Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD 20892, USA., Sweeney M; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London WC1N 3BG, United Kingdom., Wood N; Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Giunti P; Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Ataxia Center, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Durr A; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), Paris, France.; APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, 75013 Paris, France., Holmans P; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, United Kingdom., Houlden H; Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London WC1N 3BG, United Kingdom., Tabrizi SJ; Department of Neurodegenerative Disease, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Jones L; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, United Kingdom.

Publikováno v: Annals of neurology [Ann Neurol] 2016 Jun; Vol. 79 (6), pp. 983-90. Date of Electronic Publication: 2016 May 06.

What is the Pathogenic CAG Expansion Length in Huntington's Disease?

Autor: Donaldson, Jasmine¹ (AUTHOR), Powell, Sophie¹ (AUTHOR), Rickards, Nadia¹ (AUTHOR), Holmans, Peter¹ (AUTHOR), Jones, Lesley¹ (AUTHOR) JonesL1@cf.ac.uk, Pearson, Christopher E. (AUTHOR), Wheeler, Vanessa (AUTHOR)

Publikováno v: Journal of Huntington's Disease. 2021, Vol. 10 Issue 1, p175-202. 28p.

Genetic Variation in ATXN3 (Ataxin-3) 3′UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.

Autor: Melo, Ana Rosa Vieira, Raposo, Mafalda, Ventura, Marta, Martins, Sandra, Pavão, Sara, Alonso, Isabel, Bettencourt, Conceição, Lima, Manuela

Publikováno v: Cerebellum; Feb2023, Vol. 22 Issue 1, p37-45, 9p

Lesley Jones: In Memoriam.

Autor: Rosser, Anne (AUTHOR), Tabrizi, Sarah (AUTHOR)

Publikováno v: Journal of Huntington's Disease. 2022, Vol. 11 Issue 4, p349-350. 2p.