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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: delatycki mb. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.
Muller C, Gallacher L, Keogh L, McInerney-Leo A, Boughtwood T, Gleeson P, Barlow-Stewart K, Delatycki MB, Winship I, Nowak KJ, Otlowski M, Lacaze P, Tiller J. Muller C, et al. Among authors: delatycki mb. Eur J Hum Genet. 2024 Apr 19. doi: 10.1038/s41431-024-01602-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38637700
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.
Woodcock IR, Tachas G, Desem N, Houweling PJ, Kean M, Emmanuel J, Kennedy R, Carroll K, de Valle K, Adams J, Lamandé SR, Coles C, Tiong C, Burton M, Villano D, Button P, Hogrel JY, Catling-Seyffer S, Ryan MM, Delatycki MB, Yiu EM. Woodcock IR, et al. Among authors: delatycki mb. PLoS One. 2024 Jan 25;19(1):e0294847. doi: 10.1371/journal.pone.0294847. eCollection 2024. PLoS One. 2024. PMID: 38271438 Free PMC article. Clinical Trial.
370 results