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NMNAT1 mutations cause Leber congenital amaurosis.
Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA. Falk MJ, et al. Among authors: xiao r. Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842227 Free PMC article.
Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.
Dingley SD, Polyak E, Ostrovsky J, Srinivasan S, Lee I, Rosenfeld AB, Tsukikawa M, Xiao R, Selak MA, Coon JJ, Hebert AS, Grimsrud PA, Kwon YJ, Pagliarini DJ, Gai X, Schurr TG, Hüttemann M, Nakamaru-Ogiso E, Falk MJ. Dingley SD, et al. Among authors: xiao r. J Mol Biol. 2014 May 29;426(11):2199-216. doi: 10.1016/j.jmb.2014.02.009. Epub 2014 Feb 14. J Mol Biol. 2014. PMID: 24534730 Free PMC article.
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.
DeBrosse C, Nanga RPR, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE. DeBrosse C, et al. Among authors: xiao r. JCI Insight. 2016 Nov 3;1(18):e88207. doi: 10.1172/jci.insight.88207. JCI Insight. 2016. PMID: 27812541 Free PMC article.
Hospitalizations for mitochondrial disease across the lifespan in the U.S.
McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM. McCormack SE, et al. Among authors: xiao r. Mol Genet Metab. 2017 Jun;121(2):119-126. doi: 10.1016/j.ymgme.2017.04.007. Epub 2017 Apr 19. Mol Genet Metab. 2017. PMID: 28442181 Free PMC article.
3,060 results