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118 results

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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: blakely el. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Role of mitochondrial DNA mutations in disease and aging.
Cottrell DA, Blakely EL, Borthwick GM, Johnson MA, Taylor GA, Brierley EJ, Ince PG, Turnbull DM. Cottrell DA, et al. Among authors: blakely el. Ann N Y Acad Sci. 2000 Jun;908:199-207. doi: 10.1111/j.1749-6632.2000.tb06647.x. Ann N Y Acad Sci. 2000. PMID: 10911959 Review.
Mitochondrial DNA mutations in disease and ageing.
Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM. Cottrell DA, et al. Among authors: blakely el. Novartis Found Symp. 2001;235:234-43; discussion 243-6. doi: 10.1002/0470868694.ch19. Novartis Found Symp. 2001. PMID: 11280028 Review.
Somatic mitochondrial DNA mutations in adult-onset leukaemia.
He L, Luo L, Proctor SJ, Middleton PG, Blakely EL, Taylor RW, Turnbull DM. He L, et al. Among authors: blakely el. Leukemia. 2003 Dec;17(12):2487-91. doi: 10.1038/sj.leu.2403146. Leukemia. 2003. PMID: 14523470
Mitochondrial DNA deletion in "identical" twin brothers.
Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Blakely EL, et al. J Med Genet. 2004 Feb;41(2):e19. doi: 10.1136/jmg.2003.011296. J Med Genet. 2004. PMID: 14757869 Free PMC article. No abstract available.
118 results