McFarland R - Search Results

1

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. Among authors: mcfarland r. Neurology. 2004 Apr 27;62(8):1420-3. doi: 10.1212/01.wnl.0000120667.77372.46. Neurology. 2004. PMID: 15111688

2

Mitochondrial disease in adults: a scale to monitor progression and treatment.

Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Schaefer AM, et al. Among authors: mcfarland r. Neurology. 2006 Jun 27;66(12):1932-4. doi: 10.1212/01.wnl.0000219759.72195.41. Neurology. 2006. PMID: 16801664 Clinical Trial.

3

Mitochondrial disease--its impact, etiology, and pathology.

McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Curr Top Dev Biol. 2007;77:113-55. doi: 10.1016/S0070-2153(06)77005-3. Curr Top Dev Biol. 2007. PMID: 17222702 Review.

4

Prevalence and progression of diabetes in mitochondrial disease.

Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Whittaker RG, et al. Among authors: mcfarland r. Diabetologia. 2007 Oct;50(10):2085-9. doi: 10.1007/s00125-007-0779-9. Epub 2007 Jul 26. Diabetologia. 2007. PMID: 17653689

5

Homoplasmy, heteroplasmy, and mitochondrial dystonia.

McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. McFarland R, et al. Neurology. 2007 Aug 28;69(9):911-6. doi: 10.1212/01.wnl.0000267843.10977.4a. Neurology. 2007. PMID: 17724295

6

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Whittaker RG, et al. Among authors: mcfarland r. Neurology. 2009 Feb 10;72(6):568-9. doi: 10.1212/01.wnl.0000342121.91336.4d. Neurology. 2009. PMID: 19204268 Free PMC article. No abstract available.

7

Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.

Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM. Aitken H, et al. Among authors: mcfarland r. Neurology. 2009 May 5;72(18):e86-90. doi: 10.1212/WNL.0b013e3181a411b8. Neurology. 2009. PMID: 19414717 No abstract available.

8

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Among authors: mcfarland r. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.

9

Batteries not included: diagnosis and management of mitochondrial disease.

McFarland R, Turnbull DM. McFarland R, et al. J Intern Med. 2009 Feb;265(2):210-28. doi: 10.1111/j.1365-2796.2008.02066.x. J Intern Med. 2009. PMID: 19192037 Free article. Review.

10

A scale to monitor progression and treatment of mitochondrial disease in children.

Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. Phoenix C, et al. Among authors: mcfarland r. Neuromuscul Disord. 2006 Dec;16(12):814-20. doi: 10.1016/j.nmd.2006.08.006. Epub 2006 Nov 22. Neuromuscul Disord. 2006. PMID: 17123819

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