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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: payne b. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
Molecular pathogenesis of polymerase γ-related neurodegeneration.
Tzoulis C, Tran GT, Coxhead J, Bertelsen B, Lilleng PK, Balafkan N, Payne B, Miletic H, Chinnery PF, Bindoff LA. Tzoulis C, et al. Among authors: payne b. Ann Neurol. 2014 Jul;76(1):66-81. doi: 10.1002/ana.24185. Epub 2014 Jun 14. Ann Neurol. 2014. PMID: 24841123 Free PMC article.
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.
Floros VI, Pyle A, Dietmann S, Wei W, Tang WCW, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF. Floros VI, et al. Among authors: payne b. Nat Cell Biol. 2018 Feb;20(2):144-151. doi: 10.1038/s41556-017-0017-8. Epub 2018 Jan 15. Nat Cell Biol. 2018. PMID: 29335530 Free PMC article.
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.
726 results