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Page 1
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.
Nat Commun. 2018.
PMID: 30283131
Free PMC article.
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. Among authors: gilberti m.
JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357.
JAMA Neurol. 2017.
PMID: 28395030
Free PMC article.
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Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.
Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG.
Smith F, et al. Among authors: gilberti m.
Haematologica. 2018 Dec;103(12):e564-e566. doi: 10.3324/haematol.2018.194464. Epub 2018 Jul 5.
Haematologica. 2018.
PMID: 29976739
Free PMC article.
No abstract available.
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Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M, Baruffini E, Donnini C, Dallabona C.
Gilberti M, et al.
PLoS One. 2018 Oct 1;13(10):e0205014. doi: 10.1371/journal.pone.0205014. eCollection 2018.
PLoS One. 2018.
PMID: 30273399
Free PMC article.
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A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.
di Punzio G, Gilberti M, Baruffini E, Lodi T, Donnini C, Dallabona C.
di Punzio G, et al. Among authors: gilberti m.
Int J Mol Sci. 2021 Nov 12;22(22):12223. doi: 10.3390/ijms222212223.
Int J Mol Sci. 2021.
PMID: 34830106
Free PMC article.
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