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583 results
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The mitochondrial genome and mitochondrial muscle disorders.
Schaefer AM, Taylor RW, Turnbull DM. Schaefer AM, et al. Among authors: turnbull dm. Curr Opin Pharmacol. 2001 Jun;1(3):288-93. doi: 10.1016/s1471-4892(01)00051-0. Curr Opin Pharmacol. 2001. PMID: 11712753 Review.
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Among authors: turnbull dm. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 Free PMC article.
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Stewart JD, et al. Among authors: turnbull dm. J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180. J Med Genet. 2009. PMID: 19251978
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations.
Chinnery PF, Brown DT, Archibald K, Curtis A, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. J Med Genet. 2002 May;39(5):E22. doi: 10.1136/jmg.39.5.e22. J Med Genet. 2002. PMID: 12011163 Free PMC article. No abstract available.
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Kirby DM, et al. Among authors: turnbull dm. J Med Genet. 2004 Oct;41(10):784-9. doi: 10.1136/jmg.2004.020537. J Med Genet. 2004. PMID: 15466014 Free PMC article. No abstract available.
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