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602 results

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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Pitceathly RD, et al. Among authors: turnbull dm. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29. Brain. 2012. PMID: 23107649 Free PMC article.
The neurology of mitochondrial DNA disease.
McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Lancet Neurol. 2002 Oct;1(6):343-51. doi: 10.1016/s1474-4422(02)00159-x. Lancet Neurol. 2002. PMID: 12849395 Review.
Progressive depletion of mtDNA in mitochondrial myopathy.
Durham SE, Brown DT, Turnbull DM, Chinnery PF. Durham SE, et al. Among authors: turnbull dm. Neurology. 2006 Aug 8;67(3):502-4. doi: 10.1212/01.wnl.0000227961.55640.2f. Neurology. 2006. PMID: 16894115
Prevalence of mitochondrial DNA disease in adults.
Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Schaefer AM, et al. Among authors: turnbull dm. Ann Neurol. 2008 Jan;63(1):35-9. doi: 10.1002/ana.21217. Ann Neurol. 2008. PMID: 17886296
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Hudson G, et al. Among authors: turnbull dm. Brain. 2008 Feb;131(Pt 2):329-37. doi: 10.1093/brain/awm272. Epub 2007 Dec 7. Brain. 2008. PMID: 18065439
A neurological perspective on mitochondrial disease.
McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Lancet Neurol. 2010 Aug;9(8):829-40. doi: 10.1016/S1474-4422(10)70116-2. Lancet Neurol. 2010. PMID: 20650404 Review.
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.
Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW. Alston CL, et al. Among authors: turnbull dm. Neurology. 2013 Dec 3;81(23):2051-3. doi: 10.1212/01.wnl.0000436931.94291.e6. Epub 2013 Nov 6. Neurology. 2013. PMID: 24198295 Free PMC article.
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: turnbull dm. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
602 results