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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: baker mr. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.
Clinical reasoning: a 39-year-old man with abdominal cramps.
Jaiser SR, Baker MR, Whittaker RG, Birchall D, Chinnery PF. Jaiser SR, et al. Among authors: baker mr. Neurology. 2013 Jul 9;81(2):e5-9. doi: 10.1212/WNL.0b013e31829a335e. Neurology. 2013. PMID: 23836948 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: baker mr. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
Short latency afferent inhibition: Effects of ageing.
Yarnall AJ, Ho BS, Eshun E, David R, Rochester L, Burn DJ, Baker MR. Yarnall AJ, et al. Among authors: baker mr. Clin Neurophysiol. 2016 Jun;127(6):2410-3. doi: 10.1016/j.clinph.2016.03.014. Epub 2016 Mar 19. Clin Neurophysiol. 2016. PMID: 27178860 No abstract available.
220 results