McFarland R - Search Results

1

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P. Pacheu-Grau D, et al. Among authors: mcfarland r. Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305. Hum Mol Genet. 2018. PMID: 30452684 Free PMC article.

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

4

The neurology of mitochondrial DNA disease.

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

5

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

6

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

7

The diagnosis of mitochondrial muscle disease.

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

8

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. Ann Neurol. 2004 Apr;55(4):478-84. doi: 10.1002/ana.20004. Ann Neurol. 2004. PMID: 15048886

9

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: mcfarland r. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

10

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull DM, McFarland R, Taylor RW. Blakely EL, et al. Among authors: mcfarland r. J Neurol Sci. 2004 Oct 15;225(1-2):99-103. doi: 10.1016/j.jns.2004.07.007. J Neurol Sci. 2004. PMID: 15465092

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