Blakely EL - Search Results

1

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.

Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: blakely el. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.

2

Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder.

Cottrell DA, Ince PG, Blakely EL, Johnson MA, Chinnery PF, Hanna M, Turnbull DM. Cottrell DA, et al. Among authors: blakely el. J Neuropathol Exp Neurol. 2000 Jul;59(7):621-7. doi: 10.1093/jnen/59.7.621. J Neuropathol Exp Neurol. 2000. PMID: 10901234

3

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. He L, et al. Among authors: blakely el. Nucleic Acids Res. 2002 Jul 15;30(14):e68. doi: 10.1093/nar/gnf067. Nucleic Acids Res. 2002. PMID: 12136116 Free PMC article.

4

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. Deschauer M, et al. Among authors: blakely el. Neuromuscul Disord. 2003 Sep;13(7-8):568-72. doi: 10.1016/s0960-8966(03)00071-3. Neuromuscul Disord. 2003. PMID: 12921794

5

Genotypes from patients indicate no paternal mitochondrial DNA contribution.

Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Taylor RW, et al. Among authors: blakely el. Ann Neurol. 2003 Oct;54(4):521-4. doi: 10.1002/ana.10673. Ann Neurol. 2003. PMID: 14520666

6

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

7

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.

8

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Taylor RW, et al. Among authors: blakely el. Neurology. 2004 Apr 27;62(8):1420-3. doi: 10.1212/01.wnl.0000120667.77372.46. Neurology. 2004. PMID: 15111688

9

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. McDonnell MT, et al. Among authors: blakely el. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

10

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull DM, McFarland R, Taylor RW. Blakely EL, et al. J Neurol Sci. 2004 Oct 15;225(1-2):99-103. doi: 10.1016/j.jns.2004.07.007. J Neurol Sci. 2004. PMID: 15465092

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