Taylor RW - Search Results

1

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.

King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR. King MS, et al. Among authors: taylor rw. Neurol Genet. 2018 Jul 20;4(4):e256. doi: 10.1212/NXG.0000000000000256. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30046662 Free PMC article.

2

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.

3

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

4

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

5

Mitochondrial DNA deletion in "identical" twin brothers.

Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Blakely EL, et al. Among authors: taylor rw. J Med Genet. 2004 Feb;41(2):e19. doi: 10.1136/jmg.2003.011296. J Med Genet. 2004. PMID: 14757869 Free PMC article. No abstract available.

6

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

7

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA. Winterthun S, et al. Among authors: taylor rw. Neurology. 2005 Apr 12;64(7):1204-8. doi: 10.1212/01.WNL.0000156516.77696.5A. Neurology. 2005. PMID: 15824347

8

Pure myopathy associated with a novel mitochondrial tRNA gene mutation.

Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, Taylor RW. Swalwell H, et al. Among authors: taylor rw. Neurology. 2006 Feb 14;66(3):447-9. doi: 10.1212/01.wnl.0000196490.36349.83. Neurology. 2006. PMID: 16476954

9

MELAS associated with mutations in the POLG1 gene.

Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. Deschauer M, et al. Among authors: taylor rw. Neurology. 2007 May 15;68(20):1741-2. doi: 10.1212/01.wnl.0000261929.92478.3e. Neurology. 2007. PMID: 17502560 No abstract available.

10

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.

McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KM, Taylor RW. McFarland R, et al. Among authors: taylor rw. Neuromuscul Disord. 2008 Jan;18(1):63-7. doi: 10.1016/j.nmd.2007.07.007. Epub 2007 Sep 6. Neuromuscul Disord. 2008. PMID: 17825557

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