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POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: taylor rw. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Treatment of mitochondrial disease.
Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Taylor RW, et al. J Bioenerg Biomembr. 1997 Apr;29(2):195-205. doi: 10.1023/a:1022646215643. J Bioenerg Biomembr. 1997. PMID: 9239544 Review.
The epidemiology of pathogenic mitochondrial DNA mutations.
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. Chinnery PF, et al. Among authors: taylor rw. Ann Neurol. 2000 Aug;48(2):188-93. Ann Neurol. 2000. PMID: 10939569
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.
963 results