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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: quinlivan r. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.
Quinlivan R, Andreu AL, Marti R; Workshop Participants. Quinlivan R, et al. Neuromuscul Disord. 2017 Dec;27(12):1143-1151. doi: 10.1016/j.nmd.2017.09.002. Epub 2017 Sep 14. Neuromuscul Disord. 2017. PMID: 29079393 No abstract available.
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
Karazi W, Coppers J, Maas D, Cup E, Bloemen B, Voet N, Groothuis JT, Pinós T, Marti Seves R, Quinlivan R, Løkken N, Vissing J, Bhai S, Wakelin A, Reason S, Voermans NC. Karazi W, et al. Among authors: quinlivan r. J Neuromuscul Dis. 2024;11(1):103-116. doi: 10.3233/JND-230027. J Neuromuscul Dis. 2024. PMID: 38108358 Free PMC article.
Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study.
Løkken N, Nielsen MR, Stemmerik MG, Ellerton C, Revsbech KL, Macrae M, Slipsager A, Krett B, Beha GH, Emanuelsson F, van Hall G, Quinlivan R, Vissing J. Løkken N, et al. Among authors: quinlivan r. Clin Nutr. 2023 Nov;42(11):2124-2137. doi: 10.1016/j.clnu.2023.09.006. Epub 2023 Sep 20. Clin Nutr. 2023. PMID: 37769369 Free article. Clinical Trial.
187 results