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Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
Dombi E, Marinaki T, Spingardi P, Millar V, Hadjichristou N, Carver J, Johnston IG, Fratter C, Poulton J. Dombi E, et al. Among authors: fratter c. Front Cell Dev Biol. 2024 Apr 2;12:1260496. doi: 10.3389/fcell.2024.1260496. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38665433 Free PMC article.
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.
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J. Uusimaa J, et al. Among authors: fratter c. Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714749 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.
A national perspective on prenatal testing for mitochondrial disease.
Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. Nesbitt V, et al. Among authors: fratter c. Eur J Hum Genet. 2014 Nov;22(11):1255-9. doi: 10.1038/ejhg.2014.35. Epub 2014 Mar 19. Eur J Hum Genet. 2014. PMID: 24642831 Free PMC article.
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Broomfield A, et al. Among authors: fratter c. J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29. J Inherit Metab Dis. 2015. PMID: 25352051 Free PMC article.
61 results