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Quoted phrase not found in phrase index: "Myopathy, lactic acidosis, and sideroblastic anemia 1"
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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Sommerville EW, et al. JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. JAMA Neurol. 2017. PMID: 28395030 Free PMC article.
IMPORTANCE: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. ...Fifteen individuals (88%) exhibited an elevated blood lactate level acc …
IMPORTANCE: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblast …
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. Fernandez-Vizarra E, et al. J Med Genet. 2007 Mar;44(3):173-80. doi: 10.1136/jmg.2006.045252. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056637 Free PMC article.
INTRODUCTION: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy with lactic acidosis and sideroblastic anaemia. ...CONCLUSIONS: The stop mutation …
INTRODUCTION: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combin …
A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs.
Dingerdissen H, Weaver DS, Karp PD, Pan Y, Simonyan V, Mazumder R. Dingerdissen H, et al. Biol Direct. 2014 Jun 3;9:9. doi: 10.1186/1745-6150-9-9. Biol Direct. 2014. PMID: 24894379 Free PMC article.
BACKGROUND: We have previously suggested a method for proteome wide analysis of variation at functional residues wherein we identified the set of all human genes with nonsynonymous single nucleotide variation (nsSNV) in the active site residue of the corresponding proteins. 34 of …
BACKGROUND: We have previously suggested a method for proteome wide analysis of variation at functional residues wherein we identified the s …