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45 results

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Page 1
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.
Abramov AY, Smulders-Srinivasan TK, Kirby DM, Acin-Perez R, Enriquez JA, Lightowlers RN, Duchen MR, Turnbull DM. Abramov AY, et al. Among authors: kirby dm. Brain. 2010 Mar;133(Pt 3):797-807. doi: 10.1093/brain/awq015. Epub 2010 Feb 15. Brain. 2010. PMID: 20157008 Free PMC article.
Mitochondrial DNA mutations affect calcium handling in differentiated neurons.
Trevelyan AJ, Kirby DM, Smulders-Srinivasan TK, Nooteboom M, Acin-Perez R, Enriquez JA, Whittington MA, Lightowlers RN, Turnbull DM. Trevelyan AJ, et al. Among authors: kirby dm. Brain. 2010 Mar;133(Pt 3):787-96. doi: 10.1093/brain/awq023. Epub 2010 Mar 5. Brain. 2010. PMID: 20207702 Free PMC article.
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Swalwell H, et al. Among authors: kirby dm. Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364701 Free PMC article.
Biochemical assays of respiratory chain complex activity.
Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Kirby DM, et al. Methods Cell Biol. 2007;80:93-119. doi: 10.1016/S0091-679X(06)80004-X. Methods Cell Biol. 2007. PMID: 17445690 Review. 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. 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.
POLG mutations and Alpers syndrome.
Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S. Davidzon G, et al. Ann Neurol. 2005 Jun;57(6):921-3. doi: 10.1002/ana.20498. Ann Neurol. 2005. PMID: 15929042
45 results