Taylor RW - Search Results

1

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW. Alahmad A, et al. Among authors: taylor rw. EMBO Mol Med. 2020 Nov 6;12(11):e12619. doi: 10.15252/emmm.202012619. Epub 2020 Sep 24. EMBO Mol Med. 2020. PMID: 32969598 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

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

4

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: taylor rw. Nucleic Acids Res. 2002 Jul 15;30(14):e68. doi: 10.1093/nar/gnf067. Nucleic Acids Res. 2002. PMID: 12136116 Free PMC article.

5

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

6

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.

7

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: taylor rw. Neuromuscul Disord. 2003 Sep;13(7-8):568-72. doi: 10.1016/s0960-8966(03)00071-3. Neuromuscul Disord. 2003. PMID: 12921794

8

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: taylor rw. Leukemia. 2003 Dec;17(12):2487-91. doi: 10.1038/sj.leu.2403146. Leukemia. 2003. PMID: 14523470

9

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

10

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

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