Zobrazeno 1 - 10
of 13
pro vyhledávání: '"DJ Hensman Moss"'
Autor:
CAM Koriath, F Guntotoi, P Norseworthy, E Dolzhenko, MA Eberle, DJ Hensman Moss, M Flower, H Hummerich, A Rosser, SJ Tabrizi, S Mead, E Wild
When the genetic test for the Huntington’s disease (HD) HTT expansion first became available almost 30 years ago, only 1% of patients tested negative. Since then, the test has become more accessible and the HD phenotype has expanded. More patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4945dd5bf800fcd5b51604e6a629c1cc
https://doi.org/10.1101/2022.09.23.509161
https://doi.org/10.1101/2022.09.23.509161
Autor:
Mark Poulter, James M. Polke, Ese E. Mudanohwo, DJ Hensman Moss, John Beck, Henry Houlden, Simon Mead, Edward J. Wild, T Campbell, Jason Hehir, Sarah J. Tabrizi, Peter McColgan, Mary G. Sweeney, A Haworth, Gary Adamson
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 85:A82-A82
Background In many cases where Huntington’s disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. Most of these individuals remain without a genetic diagnosis. A repeat expansion in the C9orf72 gene has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d640b691e45388a719e8e7ff87c0aa5f
https://doi.org/10.1136/jnnp-2014-309032.235
https://doi.org/10.1136/jnnp-2014-309032.235
Autor:
Ibañez K; William Harvey Research Institute, Queen Mary University of London, London, UK., Jadhav B; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Zanovello M; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Gagliardi D; William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Clarkson C; William Harvey Research Institute, Queen Mary University of London, London, UK., Facchini S; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.; IRCCS Mondino Foundation, Pavia, Italy., Garg P; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Martin-Trujillo A; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gies SJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Galassi Deforie V; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Dalmia A; UK Dementia Research Institute, UCL, London, UK., Hensman Moss DJ; St George's, University of London, London, UK.; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK., Vandrovcova J; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Rocca C; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Moutsianas L; Genomics England, London, UK., Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Walker H; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Turner C; Centre for Neuromuscular Disease, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Shoai M; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK., Long JD; Departments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA, USA., Fratta P; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Langbehn DR; Departments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA, USA., Tabrizi SJ; UK Dementia Research Institute, UCL, London, UK.; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.; Huntington's Disease Centre, UCL, London, UK., Caulfield MJ; William Harvey Research Institute, Queen Mary University of London, London, UK., Cortese A; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.; IRCCS Mondino Foundation, Pavia, Italy., Escott-Price V; Department of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.; Dementia Research Institute, Cardiff University, Cardiff, UK., Hardy J; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK., Houlden H; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK., Sharp AJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK. a.tucci@qmul.ac.uk.; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK. a.tucci@qmul.ac.uk.
Publikováno v:
Nature medicine [Nat Med] 2024 Nov; Vol. 30 (11), pp. 3357-3368. Date of Electronic Publication: 2024 Oct 01.
Autor:
Koriath CAM; LMU University Hospital, Department of Psychiatry and Psychotherapie, Ludwig Maximilian University of Munich, Munchen, Bayern, Germany.; MRC Prion Unit at the UCL Institute of Prion Disease, London, UK., Guntoro F; MRC Prion Unit at the UCL Institute of Prion Disease, London, UK., Norsworthy P; MRC Prion Unit at the UCL Institute of Prion Disease, London, UK., Dolzhenko E; Illumina Inc, San Diego, California, USA., Eberle M; Illumina Inc, San Diego, California, USA., Hensman Moss DJ; St George's University of London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Flower M; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Hummerich H; MRC Prion Unit at the UCL Institute of Prion Disease, London, UK., Rosser AE; Neuroscience and Mental Health Institute and BRAIN unit Cardiff University, Cardiff, UK., Tabrizi SJ; Huntington's Disease Centre, University College London, London, UK., Mead S; MRC Prion Unit at the UCL Institute of Prion Disease, London, UK., Wild EJ; Huntington's Disease Centre, University College London, London, UK e.wild@ucl.ac.uk.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2024 Oct 23. Date of Electronic Publication: 2024 Oct 23.
Autor:
Rajagopal S; UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; UK Dementia Research Institute, University College London, London WCC1N 3BG, U.K., Donaldson J; UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; UK Dementia Research Institute, University College London, London WCC1N 3BG, U.K., Flower M; UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; UK Dementia Research Institute, University College London, London WCC1N 3BG, U.K., Hensman Moss DJ; UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; UK Dementia Research Institute, University College London, London WCC1N 3BG, U.K.; St George's University of London, London SW17 0RE, U.K., Tabrizi SJ; UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; UK Dementia Research Institute, University College London, London WCC1N 3BG, U.K.
Publikováno v:
Emerging topics in life sciences [Emerg Top Life Sci] 2023 Dec 14; Vol. 7 (3), pp. 325-337.
Intellectual enrichment and genetic modifiers of cognition and brain volume in Huntington's disease.
Autor:
Papoutsi M; UCL Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London, UK.; Ixico plc, London, UK., Flower M; UCL Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London, UK., Hensman Moss DJ; UCL Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London, UK., Holmans P; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK., Estevez-Fraga C; UCL Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London, UK., Johnson EB; UCL Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London, UK., Scahill RI; UCL Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London, UK., Rees G; Wellcome Centre for Human Neuroimaging, Queen Square Institute of Neurology, University College London, London, UK.; Institute of Cognitive Neuroscience, University College London, London, UK., Langbehn D; Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Tabrizi SJ; UCL Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London, UK.; UK Dementia Research Institute at University College London, London, UK.
Publikováno v:
Brain communications [Brain Commun] 2022 Oct 31; Vol. 4 (6), pp. fcac279. Date of Electronic Publication: 2022 Oct 31 (Print Publication: 2022).
Autor:
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.
Publikováno v:
EBioMedicine [EBioMedicine] 2019 Oct; Vol. 48, pp. 568-580. Date of Electronic Publication: 2019 Oct 10.
Autor:
Hensman Moss DJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom., Robertson N; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom., Farmer R; Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, United Kingdom., Scahill RI; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom., Haider S; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom., Tessari MA; Galapagos B. V., Leiden, Netherlands., Flynn G; Charles River, Leiden, Netherlands., Fischer DF; Charles River, Leiden, Netherlands., Wild EJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom., Macdonald D; CHDI Management/CHDI Foundation, Los Angeles, California, United States of America., Tabrizi SJ; Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Publikováno v:
PloS one [PLoS One] 2017 Dec 22; Vol. 12 (12), pp. e0189891. Date of Electronic Publication: 2017 Dec 22 (Print Publication: 2017).
Autor:
Hensman Moss DJ; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK., Flower MD; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK., Lo KK; University College London Genetics Institute, University College London, London, WC1E 6BT, UK., Miller JR; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK., van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands., 't Hoen PA; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands., Stone TC; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK., Guinee A; Faculty of Education, University of Cambridge, CB2 8PQ, Cambridge UK., Langbehn DR; Departments of Psychiatry and Biostatistics, University of Iowa, IA 52242, USA., Jones L; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK., Plagnol V; University College London Genetics Institute, University College London, London, WC1E 6BT, UK., van Roon-Mom WM; Department of Human Genetics, Leiden University Medical Center, Leiden, Postzone S-4-P, The Netherlands., Holmans P; MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, CF24 4HQ, UK., Tabrizi SJ; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1B 5EH, UK.
Publikováno v:
Scientific reports [Sci Rep] 2017 Mar 21; Vol. 7, pp. 44849. Date of Electronic Publication: 2017 Mar 21.
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).