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Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing NG, Lamont PJ, Ravenscroft G. Folland C, et al. Among authors: hayhurst h. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12846. doi: 10.1111/nan.12846. Epub 2022 Aug 20. Neuropathol Appl Neurobiol. 2022. PMID: 35962550
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Hayhurst H, et al. Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911575 Free PMC article.
CAnceR IN PreGnancy (CARING) - a retrospective study of cancer diagnosed during pregnancy in the United Kingdom.
Baxter MA, Denholm M, Kingdon SJ, Kathirgamakarthigeyan S, Parikh S, Shakir R, Johnson R, Martin H, Walton M, Yao W, Swan A, Samuelson C, Ren X, Cooper A, Gray HL, Clifton S, Ball J, Gullick G, Anderson M, Dodd L, Hayhurst H, Salama M, Shotton R, Britton F, Christodoulou T, Abdul-Hamid A, Eichholz A, Evans RM, Wallroth P, Gibson F, Poole K, Rowe M, Harris J; National Oncology Trainees Collaborative for Healthcare Research (NOTCH). Baxter MA, et al. Among authors: hayhurst h. Br J Cancer. 2024 May;130(8):1261-1268. doi: 10.1038/s41416-024-02605-x. Epub 2024 Feb 21. Br J Cancer. 2024. PMID: 38383704 Free PMC article.
23 results