PCR72 Effects on Employment for Adults Within the Early Stages of Manifest Huntington's Disease: A Cross-Sectional Analysis Using Enroll-HD

Autor: L Munetsi, S Malik, G Guzauskas, I Rodriguez Santana, J Long, SJ Tabrizi, T Ali, S Ratsch, F Zhang

Publikováno v: Value in Health. 25:S404

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::df6c2379b1a9f57665b6dc75fbafdbe9
https://doi.org/10.1016/j.jval.2022.09.2007

Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY

Autor: Orth M, Oj, Handley, Schwenke C, Sb, Dunnett, Craufurd D, Ak, Ho, Wild E, Sj, Tabrizi, Georg Bernhard Landwehrmeyer, Disease Network, Investigators Of The European Huntington S.

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::02625a7e3e1071e730c2f454b3b10b0c
http://europepmc.org/abstract/med/20890398

RNA-Seq of Huntington's Disease Patient Myeloid Cells Reveals Innate Transcriptional Dysregulation Associated With Proinflammatory Pathway Activation

Autor: Jr, Miller, Kk, Lo, Andre R, Dj, Moss, Träger U, Tc, Stone, Jones L, Peter Holmans, Plagnol V, Sj, Tabrizi

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09155b5ccb727ad9ce5e740a9e0633bb
http://europepmc.org/abstract/med/27170315

Increased frequency of repeat expansion mutations across different populations.

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.

Time to Functional Loss as an Endpoint in Huntington's Disease Trials: Enrichment and Sample Size.

Autor: Mills JA; Department of Psychiatry, University of Iowa, Iowa City, IA, USA., Long JD; Department of Psychiatry, University of Iowa, Iowa City, IA, USA.; Department of Biostatistics, University of Iowa, Iowa City, IA, USA., Vaidya JG; Department of Psychiatry, University of Iowa, Iowa City, IA, USA., Gantman EC; CHDI Management, Inc., Princeton, NJ, USA., Sathe S; CHDI Management, Inc., Princeton, NJ, USA., Tabrizi SJ; UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, UK Dementia Research Institute, Department of Neurodegenerative Diseases, University College London, London, UK., Sampaio C; CHDI Management, Inc., Princeton, NJ, USA.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Oct; Vol. 39 (10), pp. 1809-1816. Date of Electronic Publication: 2024 Aug 05.