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Mitochondrial diseases.
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Gorman GS, et al. Among authors: turnbull dm. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.
Mitochondrial DNA mutations and human disease.
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Tuppen HA, et al. Among authors: turnbull dm. Biochim Biophys Acta. 2010 Feb;1797(2):113-28. doi: 10.1016/j.bbabio.2009.09.005. Epub 2009 Sep 15. Biochim Biophys Acta. 2010. PMID: 19761752 Free article. Review.
The neurology of mitochondrial DNA disease.
McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Lancet Neurol. 2002 Oct;1(6):343-51. doi: 10.1016/s1474-4422(02)00159-x. Lancet Neurol. 2002. PMID: 12849395 Review.
Progressive depletion of mtDNA in mitochondrial myopathy.
Durham SE, Brown DT, Turnbull DM, Chinnery PF. Durham SE, et al. Among authors: turnbull dm. Neurology. 2006 Aug 8;67(3):502-4. doi: 10.1212/01.wnl.0000227961.55640.2f. Neurology. 2006. PMID: 16894115
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.
Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN. Rorbach J, et al. Among authors: turnbull dm. Nucleic Acids Res. 2008 May;36(9):3065-74. doi: 10.1093/nar/gkn147. Epub 2008 Apr 8. Nucleic Acids Res. 2008. PMID: 18400783 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.
Treatment for mitochondrial disorders.
Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Pfeffer G, et al. Among authors: turnbull dm. Cochrane Database Syst Rev. 2012 Apr 18;2012(4):CD004426. doi: 10.1002/14651858.CD004426.pub3. Cochrane Database Syst Rev. 2012. PMID: 22513923 Free PMC article. Review.
600 results