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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 2
2006 3
2007 3
2008 4
2009 7
2010 3
2011 3
2012 3
2013 2
2014 4
2015 2
2016 6
2017 3
2019 3
2020 1
2021 1
2023 1
2024 0

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52 results

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Page 1
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Rákosníková T, Kelifová S, Štufková H, Lokvencová K, Lišková P, Kousal B, Honzík T, Hansíková H, Martínek V, Tesařová M. Rákosníková T, et al. Among authors: martinek v. Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. Front Genet. 2023. PMID: 37274791 Free PMC article.
Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.
Burska D, Stiburek L, Krizova J, Vanisova M, Martinek V, Sladkova J, Zamecnik J, Honzik T, Zeman J, Hansikova H, Tesarova M. Burska D, et al. Among authors: martinek v. Biochim Biophys Acta Mol Basis Dis. 2021 Aug 1;1867(8):166147. doi: 10.1016/j.bbadis.2021.166147. Epub 2021 Apr 15. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33865955 Free article.
52 results