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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
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.
Taylor RW, Jobling MS, Turnbull DM, Chinnery PF. Taylor RW, et al. Among authors: turnbull dm. J Med Genet. 2003 Jul;40(7):e85. doi: 10.1136/jmg.40.7.e85. J Med Genet. 2003. PMID: 12843334 Free PMC article. No abstract available.
The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.
Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW. Yarham JW, et al. Among authors: turnbull dm. J Neurol Sci. 2013 Feb 15;325(1-2):165-9. doi: 10.1016/j.jns.2012.12.003. Epub 2012 Dec 27. J Neurol Sci. 2013. PMID: 23273904 Free PMC article.
Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.
O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW. O'Rourke K, et al. Among authors: turnbull dm. Muscle Nerve. 2009 Oct;40(4):648-51. doi: 10.1002/mus.21342. Muscle Nerve. 2009. PMID: 19618438
Neuromuscular disease presentation with three genetic defects involving two genomes.
Al-Dosary M, Whittaker RG, Haughton J, McFarland R, Goodship J, Turnbull DM, Taylor RW. Al-Dosary M, et al. Among authors: turnbull dm. Neuromuscul Disord. 2009 Dec;19(12):841-4. doi: 10.1016/j.nmd.2009.10.001. Epub 2009 Oct 22. Neuromuscul Disord. 2009. PMID: 19853445
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.
Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, MacGowan GA, Blamire AM, Chinnery PF. Hollingsworth KG, et al. Among authors: turnbull dm. Neuromuscul Disord. 2012 Jul;22(7):592-6. doi: 10.1016/j.nmd.2012.03.001. Epub 2012 Apr 17. Neuromuscul Disord. 2012. PMID: 22513320 Free PMC article.
A neurological perspective on mitochondrial disease.
McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Lancet Neurol. 2010 Aug;9(8):829-40. doi: 10.1016/S1474-4422(10)70116-2. Lancet Neurol. 2010. PMID: 20650404 Review.
Human stem cell aging: do mitochondrial DNA mutations have a causal role?
Baines HL, Turnbull DM, Greaves LC. Baines HL, et al. Among authors: turnbull dm. Aging Cell. 2014 Apr;13(2):201-5. doi: 10.1111/acel.12199. Epub 2014 Jan 28. Aging Cell. 2014. PMID: 24382254 Free PMC article. Review.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: turnbull dm. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.
Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW. Alston CL, et al. Among authors: turnbull dm. Neurology. 2013 Dec 3;81(23):2051-3. doi: 10.1212/01.wnl.0000436931.94291.e6. Epub 2013 Nov 6. Neurology. 2013. PMID: 24198295 Free PMC article.
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