Turnbull DM - Search Results

1

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: turnbull dm. Neuromuscul Disord. 2004 Feb;14(2):162-6. doi: 10.1016/j.nmd.2003.10.011. Neuromuscul Disord. 2004. PMID: 14733964

2

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: turnbull dm. Nat Genet. 2002 Feb;30(2):145-6. doi: 10.1038/ng819. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799391

3

Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Eur J Hum Genet. 2002 Feb;10(2):141-4. doi: 10.1038/sj.ejhg.5200773. Eur J Hum Genet. 2002. PMID: 11938446

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: turnbull dm. 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. Among authors: turnbull dm. Neuromuscul Disord. 2002 Oct;12(7-8):659-664. doi: 10.1016/s0960-8966(02)00026-3. Neuromuscul Disord. 2002. PMID: 12207935

6

The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy.

Elson JL, Samuels DC, Johnson MA, Turnbull DM, Chinnery PF. Elson JL, et al. Among authors: turnbull dm. Neuromuscul Disord. 2002 Nov;12(9):858-64. doi: 10.1016/s0960-8966(02)00047-0. Neuromuscul Disord. 2002. PMID: 12398838 Clinical Trial.

7

Changes in the human mitochondrial genome after treatment of malignant disease.

Wardell TM, Ferguson E, Chinnery PF, Borthwick GM, Taylor RW, Jackson G, Craft A, Lightowlers RN, Howell N, Turnbull DM. Wardell TM, et al. Among authors: turnbull dm. Mutat Res. 2003 Apr 9;525(1-2):19-27. doi: 10.1016/s0027-5107(02)00313-5. Mutat Res. 2003. PMID: 12650902

8

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

9

Genotypes from patients indicate no paternal mitochondrial DNA contribution.

Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Ann Neurol. 2003 Oct;54(4):521-4. doi: 10.1002/ana.10673. Ann Neurol. 2003. PMID: 14520666

10

Mitochondrial DNA mutations in human colonic crypt stem cells.

Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TB, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. J Clin Invest. 2003 Nov;112(9):1351-60. doi: 10.1172/JCI19435. J Clin Invest. 2003. PMID: 14597761 Free PMC article.

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