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Increased frequency of repeat expansion mutations across different populations.

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Title: Increased frequency of repeat expansion mutations across different populations.
Authors: 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.
Source: Nature medicine [Nat Med] 2024 Nov; Vol. 30 (11), pp. 3357-3368. Date of Electronic Publication: 2024 Oct 01.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Ibañez+K%22">Ibañez K</searchLink>; William Harvey Research Institute, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Jadhav+B%22">Jadhav B</searchLink>; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Zanovello+M%22">Zanovello M</searchLink>; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.<br /><searchLink fieldCode="AU" term="%22Gagliardi+D%22">Gagliardi D</searchLink>; William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.<br /><searchLink fieldCode="AU" term="%22Clarkson+C%22">Clarkson C</searchLink>; William Harvey Research Institute, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Facchini+S%22">Facchini S</searchLink>; 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Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Sharp+AJ%22">Sharp AJ</searchLink>; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Tucci+A%22">Tucci A</searchLink>; 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.
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