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64 results

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Page 1
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group. Montero R, et al. Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11. Mitochondrion. 2013. PMID: 23583954
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.
Montague SJ, Price J, Pennycott K, Pavey NJ, Martin EM, Thirlwell I, Kemble S, Monteiro C, Redmond-Motteram L, Lawson N, Reynolds K, Fratter C, Bignell P, Groenheide A, Huskens D, de Laat B, Pike JA, Poulter NS, Thomas SG, Lowe GC, Lancashire J, Harrison P, Morgan NV. Montague SJ, et al. Among authors: fratter c. J Thromb Haemost. 2024 Aug;22(8):2281-2293. doi: 10.1016/j.jtha.2024.02.021. Epub 2024 Mar 15. J Thromb Haemost. 2024. PMID: 38492852
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C. Poulton J, et al. Among authors: fratter c. Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Biochim Biophys Acta. 2009. PMID: 19748572 Free article. Review.
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 Free PMC article.
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Fratter C, et al. Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. Neurology. 2011. PMID: 21646632 Free PMC article. No abstract available.
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.
Pitceathly RD, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Morrow JM, Evans J, Smith C, Fratter C, Woodward CE, Sweeney MG, Rahman S, Hanna MG. Pitceathly RD, et al. Among authors: fratter c. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):107-10. doi: 10.1136/jnnp-2012-303232. Epub 2012 Aug 29. J Neurol Neurosurg Psychiatry. 2013. PMID: 22933815
64 results