McFarland R - Search Results

1

Mitochondrial myopathies in adults and children: management and therapy development.

Pitceathly RD, McFarland R. Pitceathly RD, et al. Among authors: mcfarland r. Curr Opin Neurol. 2014 Oct;27(5):576-82. doi: 10.1097/WCO.0000000000000126. Curr Opin Neurol. 2014. PMID: 25188013 Review.

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

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.

4

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

5

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.

6

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

7

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.

McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. McFarland R, et al. Trends Genet. 2004 Dec;20(12):591-6. doi: 10.1016/j.tig.2004.09.014. Trends Genet. 2004. PMID: 15522452 Review.

8

Prevalence of mitochondrial DNA disease in adults.

Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Schaefer AM, et al. Among authors: mcfarland r. Ann Neurol. 2008 Jan;63(1):35-9. doi: 10.1002/ana.21217. Ann Neurol. 2008. PMID: 17886296

9

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Hudson G, et al. Among authors: mcfarland r. Brain. 2008 Feb;131(Pt 2):329-37. doi: 10.1093/brain/awm272. Epub 2007 Dec 7. Brain. 2008. PMID: 18065439

10

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM. Elson JL, et al. Among authors: mcfarland r. Hum Mutat. 2009 Nov;30(11):E984-92. doi: 10.1002/humu.21113. Hum Mutat. 2009. PMID: 19718780

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