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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2002 | 1 |
2003 | 1 |
2012 | 1 |
2013 | 1 |
2017 | 1 |
2018 | 1 |
2024 | 0 |
PubMed (cited) for id: 614667
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The genotypic and phenotypic spectrum of MTO1 deficiency.
Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.
Mol Genet Metab. 2018.
PMID: 29331171
Free PMC article.
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D.
Baruffini E, et al.
Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17.
Hum Mutat. 2013.
PMID: 23929671
Free PMC article.
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Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M.
Ghezzi D, et al.
Am J Hum Genet. 2012 Jun 8;90(6):1079-87. doi: 10.1016/j.ajhg.2012.04.011. Epub 2012 May 17.
Am J Hum Genet. 2012.
PMID: 22608499
Free PMC article.
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Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification.
Li R, Li X, Yan Q, Qin Mo J, Guan MX.
Li R, et al.
Biochim Biophys Acta. 2003 Oct 1;1629(1-3):53-9. doi: 10.1016/s0167-4781(03)00160-x.
Biochim Biophys Acta. 2003.
PMID: 14522080
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Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.
Li X, Li R, Lin X, Guan MX.
Li X, et al.
J Biol Chem. 2002 Jul 26;277(30):27256-64. doi: 10.1074/jbc.M203267200. Epub 2002 May 14.
J Biol Chem. 2002.
PMID: 12011058
Free article.
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