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Mitochondrial isolation: when size matters.
Bury AG, Vincent AE, Turnbull DM, Actis P, Hudson G. Bury AG, et al. Among authors: turnbull dm. Wellcome Open Res. 2020 Dec 2;5:226. doi: 10.12688/wellcomeopenres.16300.2. eCollection 2020. Wellcome Open Res. 2020. PMID: 33718619 Free PMC article. Review.
OPA1 in multiple mitochondrial DNA deletion disorders.
Stewart JD, Hudson G, Yu-Wai-Man P, Blakeley EL, He L, Horvath R, Maddison P, Wright A, Griffiths PG, Turnbull DM, Taylor RW, Chinnery PF. Stewart JD, et al. Among authors: turnbull dm. Neurology. 2008 Nov 25;71(22):1829-31. doi: 10.1212/01.wnl.0000335931.54095.0a. Neurology. 2008. PMID: 19029523 No abstract available.
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
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: turnbull dm. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.
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. Among authors: turnbull dm. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article.
Expanding Our Understanding of mtDNA Deletions.
Picard M, Vincent AE, Turnbull DM. Picard M, et al. Among authors: turnbull dm. Cell Metab. 2016 Jul 12;24(1):3-4. doi: 10.1016/j.cmet.2016.06.024. Cell Metab. 2016. PMID: 27411002 Free article.
600 results