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Catastrophic visual loss in a patient with Friedreich ataxia.
Porter N, Downes SM, Fratter C, Anslow P, Németh AH. Porter N, et al. Among authors: fratter c. Arch Ophthalmol. 2007 Feb;125(2):273-4. doi: 10.1001/archopht.125.2.273. Arch Ophthalmol. 2007. PMID: 17296906 No abstract available.
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J. Dombi E, et al. Among authors: fratter c. Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. Neurology. 2016. PMID: 27164671 Free PMC article. No abstract available.
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J. Liao C, et al. Among authors: fratter c. Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14. Neurology. 2017. PMID: 27974645 Free PMC article.
Unexplained gastrointestinal symptoms: think mitochondrial disease.
Chapman TP, Hadley G, Fratter C, Cullen SN, Bax BE, Bain MD, Sapsford RA, Poulton J, Travis SP. Chapman TP, et al. Among authors: fratter c. Dig Liver Dis. 2014 Jan;46(1):1-8. doi: 10.1016/j.dld.2013.04.008. Epub 2013 Jun 13. Dig Liver Dis. 2014. PMID: 23768727 Free article.
62 results