Turnbull DM - Search Results

1

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Ann Neurol. 2004 Apr;55(4):478-84. doi: 10.1002/ana.20004. Ann Neurol. 2004. PMID: 15048886

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

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

4

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. J Am Coll Cardiol. 2003 May 21;41(10):1786-96. doi: 10.1016/s0735-1097(03)00300-0. J Am Coll Cardiol. 2003. PMID: 12767666 Free article.

5

The neurology of mitochondrial DNA disease.

McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Lancet Neurol. 2002 Oct;1(6):343-51. doi: 10.1016/s1474-4422(02)00159-x. Lancet Neurol. 2002. PMID: 12849395 Review.

6

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

7

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: turnbull dm. Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787. Ann Neurol. 2004. PMID: 14705112

8

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

9

The diagnosis of mitochondrial muscle disease.

Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Neuromuscul Disord. 2004 Apr;14(4):237-45. doi: 10.1016/j.nmd.2003.12.004. Neuromuscul Disord. 2004. PMID: 15019701 Review.

10

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. McDonnell MT, et al. Among authors: turnbull dm. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

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