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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article. Clinical Trial.
Unique mitochondrial DNA in highly inbred feral cattle.
Hudson G, Wilson I, Payne BI, Elson J, Samuels DC, Santibanez-Korev M, Hall SJ, Chinnery PF. Hudson G, et al. Mitochondrion. 2012 Jul;12(4):438-40. doi: 10.1016/j.mito.2012.05.003. Epub 2012 May 17. Mitochondrion. 2012. PMID: 22609322 Free PMC article.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Otten ABC, Sallevelt SCEH, Carling PJ, Dreesen JCFM, Drüsedau M, Spierts S, Paulussen ADC, de Die-Smulders CEM, Herbert M, Chinnery PF, Samuels DC, Lindsey P, Smeets HJM. Otten ABC, et al. Hum Reprod. 2018 Jul 1;33(7):1331-1341. doi: 10.1093/humrep/dey114. Hum Reprod. 2018. PMID: 29850888 Free PMC article.
Universal heteroplasmy of human mitochondrial DNA.
Payne BA, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Payne BA, et al. Hum Mol Genet. 2013 Jan 15;22(2):384-90. doi: 10.1093/hmg/dds435. Epub 2012 Oct 16. Hum Mol Genet. 2013. PMID: 23077218 Free PMC article.
Epigenetics, epidemiology and mitochondrial DNA diseases.
Chinnery PF, Elliott HR, Hudson G, Samuels DC, Relton CL. Chinnery PF, et al. Int J Epidemiol. 2012 Feb;41(1):177-87. doi: 10.1093/ije/dyr232. Epub 2012 Jan 28. Int J Epidemiol. 2012. PMID: 22287136 Free PMC article. Review.
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations.
Payne BA, Wilson IJ, Hateley CA, Horvath R, Santibanez-Koref M, Samuels DC, Price DA, Chinnery PF. Payne BA, et al. Nat Genet. 2011 Jun 26;43(8):806-10. doi: 10.1038/ng.863. Nat Genet. 2011. PMID: 21706004 Free PMC article.
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF. Stewart JD, et al. Biochim Biophys Acta. 2011 Mar;1812(3):321-5. doi: 10.1016/j.bbadis.2010.11.012. Epub 2010 Dec 5. Biochim Biophys Acta. 2011. PMID: 21138766
Pathogenic mitochondrial DNA mutations are common in the general population.
Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Elliott HR, et al. Am J Hum Genet. 2008 Aug;83(2):254-60. doi: 10.1016/j.ajhg.2008.07.004. Am J Hum Genet. 2008. PMID: 18674747 Free PMC article.
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes.
Cree LM, Samuels DC, de Sousa Lopes SC, Rajasimha HK, Wonnapinij P, Mann JR, Dahl HH, Chinnery PF. Cree LM, et al. Nat Genet. 2008 Feb;40(2):249-54. doi: 10.1038/ng.2007.63. Epub 2008 Jan 27. Nat Genet. 2008. PMID: 18223651
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