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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: wilson i. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 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. Among authors: wilson i. 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.
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.
Hudson G, Panoutsopoulou K, Wilson I, Southam L, Rayner NW, Arden N, Birrell F, Carluke I, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralston SH, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Zeggini E, Samuels DC, Loughlin J, Chinnery PF; arcOGEN Consortium. Hudson G, et al. Among authors: wilson i. Ann Rheum Dis. 2013 Jan;72(1):136-9. doi: 10.1136/annrheumdis-2012-201932. Epub 2012 Sep 14. Ann Rheum Dis. 2013. PMID: 22984172 Free PMC article.
Universal heteroplasmy of human mitochondrial DNA.
Payne BA, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Payne BA, et al. Among authors: wilson ij. Hum Mol Genet. 2013 Jan 15;22(2):384-90. doi: 10.1093/hmg/dds435. Epub 2012 Oct 16. Hum Mol Genet. 2013. PMID: 23077218 Free PMC article.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Pfeffer G, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13. J Neurol Neurosurg Psychiatry. 2014. PMID: 23486992 Free PMC article.
Titinopathy in a Canadian family sharing the British founder haplotype.
Pfeffer G, Joseph JT, Innes AM, Frizzell JB, Wilson IJ, Brownell AK, Chinnery PF. Pfeffer G, et al. Can J Neurol Sci. 2014 Jan;41(1):90-4. doi: 10.1017/s0317167100016346. Can J Neurol Sci. 2014. PMID: 24384345 Free PMC article. No abstract available.
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