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Reversal of a mitochondrial DNA defect in human skeletal muscle.
Clark KM, Bindoff LA, Lightowlers RN, Andrews RM, Griffiths PG, Johnson MA, Brierley EJ, Turnbull DM. Clark KM, et al. Among authors: bindoff la. Nat Genet. 1997 Jul;16(3):222-4. doi: 10.1038/ng0797-222. Nat Genet. 1997. PMID: 9207784 No abstract available.
Nonrandom tissue distribution of mutant mtDNA.
Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Chinnery PF, et al. Am J Med Genet. 1999 Aug 27;85(5):498-501. Am J Med Genet. 1999. PMID: 10405450
The epidemiology of pathogenic mitochondrial DNA mutations.
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. Chinnery PF, et al. Among authors: bindoff la. Ann Neurol. 2000 Aug;48(2):188-93. Ann Neurol. 2000. PMID: 10939569
Risk of developing a mitochondrial DNA deletion disorder.
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: bindoff la. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Among authors: bindoff la. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.
226 results