Taylor RW - Search Results

1

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. Oláhová M, et al. Among authors: taylor rw. Hum Mol Genet. 2019 Nov 15;28(22):3766-3776. doi: 10.1093/hmg/ddz202. Hum Mol Genet. 2019. PMID: 31435670 Free PMC article.

2

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.

Morris AA, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM. Morris AA, et al. Among authors: taylor rw. Pediatr Nephrol. 1995 Aug;9(4):407-11. doi: 10.1007/BF00866711. Pediatr Nephrol. 1995. PMID: 7577396

3

Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.

Morris AA, Taylor RW, Lightowlers RN, Aynsley-Green A, Bartlett K, Turnbull DM. Morris AA, et al. Among authors: taylor rw. Hum Mol Genet. 1995 Apr;4(4):747-9. doi: 10.1093/hmg/4.4.747. Hum Mol Genet. 1995. PMID: 7633427 No abstract available.

4

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

5

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

6

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

7

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

8

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.

9

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

10

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

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