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Page 1
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Keogh MJ, et al. Genome Res. 2017 Jan;27(1):165-173. doi: 10.1101/gr.210609.116. Epub 2016 Dec 21. Genome Res. 2017. PMID: 28003435 Free PMC article.
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.
Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Wei W, et al. Acta Neuropathol Commun. 2017 Feb 2;5(1):13. doi: 10.1186/s40478-016-0404-6. Acta Neuropathol Commun. 2017. PMID: 28153046 Free PMC article.
Exome sequencing in dementia with Lewy bodies.
Keogh MJ, Kurzawa-Akanbi M, Griffin H, Douroudis K, Ayers KL, Hussein RI, Hudson G, Pyle A, Cordell HJ, Attems J, McKeith IG, O'Brien JT, Burn DJ, Morris CM, Thomas AJ, Chinnery PF. Keogh MJ, et al. Transl Psychiatry. 2016 Feb 2;6(2):e728. doi: 10.1038/tp.2015.220. Transl Psychiatry. 2016. PMID: 26836416 Free PMC article.
Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.
Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Wei W, et al. Acta Neuropathol Commun. 2017 Feb 22;5(1):17. doi: 10.1186/s40478-017-0419-7. Acta Neuropathol Commun. 2017. PMID: 28228164 Free PMC article. No abstract available.
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Kurzawa-Akanbi M, Keogh M, Tsefou E, Ramsay L, Johnson M, Keers S, Wsa Ochieng L, McNair A, Singh P, Khan A, Pyle A, Hudson G, Ince PG, Attems J, Burn J, Chinnery PF, Morris CM. Kurzawa-Akanbi M, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(1):26-42. doi: 10.1111/nan.12634. Epub 2020 Jun 19. Neuropathol Appl Neurobiol. 2021. PMID: 32464705
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. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
26 results