Taylor RW - Search Results

1

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HA, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW. Lehmann D, et al. Among authors: taylor rw. Eur J Hum Genet. 2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15. Eur J Hum Genet. 2015. PMID: 25873012 Free PMC article.

2

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.

Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM. Taylor RW, et al. Ann Neurol. 1996 Sep;40(3):459-62. doi: 10.1002/ana.410400318. Ann Neurol. 1996. PMID: 8797538

3

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.

Chinnery PF, Johnson MA, Taylor RW, Lightowlers RN, Turnbull DM. Chinnery PF, et al. Among authors: taylor rw. Ann Neurol. 1997 Mar;41(3):408-10. doi: 10.1002/ana.410410319. Ann Neurol. 1997. PMID: 9066365

4

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.

Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. Chinnery PF, et al. Among authors: taylor rw. Neurology. 1997 Oct;49(4):1166-8. doi: 10.1212/wnl.49.4.1166. Neurology. 1997. PMID: 9339712

5

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.

Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM. Taylor RW, et al. Biochem Biophys Res Commun. 1998 Feb 4;243(1):47-51. doi: 10.1006/bbrc.1997.8055. Biochem Biophys Res Commun. 1998. PMID: 9473477

6

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: taylor rw. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.

7

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

8

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.

Birch-Machin MA, Taylor RW, Cochran B, Ackrell BA, Turnbull DM. Birch-Machin MA, et al. Among authors: taylor rw. Ann Neurol. 2000 Sep;48(3):330-5. Ann Neurol. 2000. PMID: 10976639

9

In-vitro genetic modification of mitochondrial function.

Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. Taylor RW, et al. Hum Reprod. 2000 Jul;15 Suppl 2:79-85. doi: 10.1093/humrep/15.suppl_2.79. Hum Reprod. 2000. PMID: 11041515 Review.

10

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. Taylor RW, et al. Ann Neurol. 2001 Jul;50(1):104-7. doi: 10.1002/ana.1084. Ann Neurol. 2001. PMID: 11456298

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