Taylor RW - Search Results

1

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M. Saoura M, et al. Among authors: taylor rw. Hum Mutat. 2019 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31045291 Free PMC article.

2

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. McFarland R, et al. Among authors: taylor rw. Nat Genet. 2002 Feb;30(2):145-6. doi: 10.1038/ng819. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799391

3

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM. Taylor RW, et al. Neuromuscul Disord. 2002 Oct;12(7-8):659-664. doi: 10.1016/s0960-8966(02)00026-3. Neuromuscul Disord. 2002. PMID: 12207935

4

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.

5

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. McFarland R, et al. Among authors: taylor rw. Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787. Ann Neurol. 2004. PMID: 14705112

6

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.

McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. McFarland R, et al. Among authors: taylor rw. Neuromuscul Disord. 2004 Feb;14(2):162-6. doi: 10.1016/j.nmd.2003.10.011. Neuromuscul Disord. 2004. PMID: 14733964

7

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.

8

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: taylor rw. Ann Neurol. 2004 Apr;55(4):478-84. doi: 10.1002/ana.20004. Ann Neurol. 2004. PMID: 15048886

9

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. Neurology. 2004 Apr 27;62(8):1420-3. doi: 10.1212/01.wnl.0000120667.77372.46. Neurology. 2004. PMID: 15111688

10

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: taylor rw. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

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