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223 results

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Page 1
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: thorburn dr. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
The molecular basis of malonyl-CoA decarboxylase deficiency.
FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. FitzPatrick DR, et al. Among authors: thorburn dr. Am J Hum Genet. 1999 Aug;65(2):318-26. doi: 10.1086/302492. Am J Hum Genet. 1999. PMID: 10417274 Free PMC article.
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Kirby DM, et al. Among authors: thorburn dr. J Med Genet. 2004 Oct;41(10):784-9. doi: 10.1136/jmg.2004.020537. J Med Genet. 2004. PMID: 15466014 Free PMC article. No abstract available.
Biochemical assays of respiratory chain complex activity.
Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Kirby DM, et al. Among authors: thorburn dr. Methods Cell Biol. 2007;80:93-119. doi: 10.1016/S0091-679X(06)80004-X. Methods Cell Biol. 2007. PMID: 17445690 Review. No abstract available.
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW. Tuppen HA, et al. Among authors: thorburn dr. Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6. Brain. 2010. PMID: 20819849 Free PMC article.
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Swalwell H, et al. Among authors: thorburn dr. Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364701 Free PMC article.
223 results