Taylor RW - 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: taylor rw. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 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

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids.

Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. Taylor RW, et al. Nat Genet. 1997 Feb;15(2):212-5. doi: 10.1038/ng0297-212. Nat Genet. 1997. PMID: 9020853

4

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

5

Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population.

Newkirk JE, Taylor RW, Howell N, Bindoff LA, Chinnery PF, Alberti KG, Turnbull DM, Walker M. Newkirk JE, et al. Among authors: taylor rw. Diabet Med. 1997 Jun;14(6):457-60. doi: 10.1002/(SICI)1096-9136(199706)14:6<457::AID-DIA372>3.0.CO;2-W. Diabet Med. 1997. PMID: 9212310

6

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.

7

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

8

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

9

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.

10

Nonrandom tissue distribution of mutant mtDNA.

Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Chinnery PF, et al. Among authors: taylor rw. Am J Med Genet. 1999 Aug 27;85(5):498-501. Am J Med Genet. 1999. PMID: 10405450

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