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The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG. Hall AM, et al. Among authors: hanna mg. Kidney Int. 2015 Mar;87(3):610-22. doi: 10.1038/ki.2014.297. Epub 2014 Sep 10. Kidney Int. 2015. PMID: 25207879 Free article.
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: hanna mg. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Stewart JD, et al. Among authors: hanna mg. J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180. J Med Genet. 2009. PMID: 19251978
592 results