Ms Sophie Powell

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Publications

2 publications

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Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

Branduff McAllister, Jasmine Donaldson, Caroline S. Binda, Sophie Powell, Uroosa Chughtai, Joseph Stone, Sergey Lobanov, Linda Elliston, Laura-Nadine Schuhmacher, Elliott Rees, Georgina Menzies, Marc Ciosi, Alastair Maxwell, Michael J. Chao, Eun Pyo Hong, Diane Lucente, Vanessa Wheeler, Jong-Min Lee, Marcy E. MacDonald, Jeffrey D. Long, Elizabeth H. Aylward, G. Bernhard Landwehrmeyer, Anne E. Rosser, Jane S. Paulsen, Nigel M. Williams, James F. Gusella, Darren G. Monckton, Nicholas D. Allen, Peter Holmans & Thomas H. Massey, 2022, Nature Neuroscience, 25, 446–457

DOI: 10.1038/s41593-022-01033-5

Type: article

What is the pathogenic CAG expansion length in Huntington’s disease?

Sophie Powell, 2021, Journal of Huntington's Disease, 10(1)

DOI: 10.3233/JHD-200445

Type: article