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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: taylor rw. Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16. Genet Med. 2021. PMID: 34400813 Free PMC article.
The neurology of mitochondrial DNA disease.
McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: taylor rw. Lancet Neurol. 2002 Oct;1(6):343-51. doi: 10.1016/s1474-4422(02)00159-x. Lancet Neurol. 2002. PMID: 12849395 Review.
The diagnosis of mitochondrial muscle disease.
Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. Taylor RW, et al. Neuromuscul Disord. 2004 Apr;14(4):237-45. doi: 10.1016/j.nmd.2003.12.004. Neuromuscul Disord. 2004. PMID: 15019701 Review.
963 results