MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

Autor: Flower, M, Lomeikaite, V, Ciosi, M, Cumming, S, Morales, F, Lo, K, Hensman Moss, D, Jones, L, Holmans, P, TRACK-HD Investigators, OPTIMISTIC Consortium, Monckton, DG, Tabrizi, SJ

The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington's disease and myotonic dystrophy type 1. A recent Huntington's disease genome-wide association study found rs557874766, an i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c1bbd08bd991cf0b2db3df1f5b875b9a
https://openaccess.sgul.ac.uk/id/eprint/113056/1/awz115.pdf

Detection of motor changes in huntington's disease using dynamic causal modeling

Autor: Minkova, Lora, Scheller, Elisa, Peter, Jessica, Abdulkadir, Ahmed, Kaller, Christoph P., Roos, Raymund A. C., Dürr, Alexandra, Leavitt, Blair R., Tabrizi, Sarah J., Kloppel, Stefan, Coleman, Allison J., Decolongon, J., Fan, M., Koren, T., Jauffret, Céline, Justo, Damian, Lehericy, Stephane, Nigaud, Kevin, Valabrègue, Romain, Schoonderbeek, A., t'Hart, Ellen P., Crawford, H., Gregory, Sue, Hensman Moss, D., Johnson, Eileanoir, Read, Joy, Owen, Gail N., Papoutsi, Marina, Berna, C., Razi, Adeel, Rees, Gwyneth, Scahill, Rachael I., Craufurd, David I. O., Reilmann, R., Weber, Nathan, Stout, Julie C., Labuschagne, Izelle, Orth, M., Landwehrmeyer, G. Bernhard, Langbehn, Douglas R., Johnson, Hans, Long, Jane, Mills, J.

Deficits in motor functioning are one of the hallmarks of Huntington's disease (HD), a genetically caused neurodegenerative disorder. We applied functional magnetic resonance imaging (fMRI) and dynamic causal modeling (DCM) to assess changes that occ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3651::f58b780ff8a681bcde3c5a1e97e491e3
https://acuresearchbank.acu.edu.au/item/88q48/detection-of-motor-changes-in-huntington-s-disease-using-dynamic-causal-modeling

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Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions.

Autor: Estevez-Fraga C; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Magrinelli F; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Hensman Moss D; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Mulroy E; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Di Lazzaro G; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Latorre A; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Mackenzie M; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Houlden H; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Tabrizi SJ; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada., Bhatia KP; Department of Neurodegenerative Diseases (C.E.-F., D.H.M., S.J.T.), Department of Clinical and Movement Neurosciences (A.L, F.M., E.M., G.D.L., M.M., K.P.B.), and Department of Neuromuscular Disorders (H.H.), UCL Queen Square Institute of Neurology, United Kingdom; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; St George's University of London (D.H.M.), United Kingdom; Department of Systems Medicine (G.D.L.), University of Rome Tor Vergata, Italy; and Pacific Parkinson's Research Centre and Djavad Mowafaghian Centre for Brain Health (M.M.), University of British Columbia, Vancouver, Canada.

Publikováno v: Neurology. Genetics [Neurol Genet] 2021 Mar 12; Vol. 7 (2), pp. e575. Date of Electronic Publication: 2021 Mar 12 (Print Publication: 2021).

White matter predicts functional connectivity in premanifest Huntington's disease.

Autor: McColgan P; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Gregory S; Wellcome Trust Centre for Neuroimaging UCL Institute of Neurology London WC1N 3BG United Kingdom., Razi A; Wellcome Trust Centre for Neuroimaging UCL Institute of Neurology London WC1N 3BG United Kingdom; Department of Electronic Engineering NED University of Engineering and Technology Karachi Pakistan., Seunarine KK; Developmental Imaging and Biophysics Section UCL Institute of Child Health London WC1N 1EH United Kingdom., Gargouri F; APHP Department of Genetics Groupe Hospitalier Pitié-Salpêtrière and ICM (Brain and Spine Institute) INSERM U1127 CNRS UMR 7225 Sorbonne Universités - UPMC Université Paris VI UMR_S 1127 Paris France., Durr A; APHP Department of Genetics Groupe Hospitalier Pitié-Salpêtrière and ICM (Brain and Spine Institute) INSERM U1127 CNRS UMR 7225 Sorbonne Universités - UPMC Université Paris VI UMR_S 1127 Paris France., Roos RA; Department of Neurology Leiden University Medical Centre Leiden 2300RC The Netherlands., Leavitt BR; Department of Medical Genetics Centre for Molecular Medicine and Therapeutics University of British Columbia 950 West 28th Avenue Vancouver BC V5Z 4H4 Canada., Scahill RI; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Clark CA; Developmental Imaging and Biophysics Section UCL Institute of Child Health London WC1N 1EH United Kingdom., Tabrizi SJ; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom; National Hospital for Neurology and Neurosurgery Queen Square London WC1N 3BG United Kingdom., Rees G; Wellcome Trust Centre for Neuroimaging UCL Institute of Neurology London WC1N 3BG United Kingdom., Coleman A; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Decolongon J; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Fan M; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Petkau T; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Jauffret C; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Justo D; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Lehericy S; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Nigaud K; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Valabrègue R; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Choonderbeek A; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Hart EP; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Hensman Moss DJ; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Crawford H; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Johnson E; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Papoutsi M; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Berna C; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Reilmann R; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Weber N; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Stout J; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Labuschagne I; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Landwehrmeyer B; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Orth M; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom., Johnson H; Department of Neurodegenerative Disease UCL Institute of Neurology London WC1N 3BG United Kingdom.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2017 Jan 16; Vol. 4 (2), pp. 106-118. Date of Electronic Publication: 2017 Jan 16 (Print Publication: 2017).