Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

138 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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: tesarova m. Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. Front Genet. 2023. PMID: 37274791 Free PMC article.
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
Štufková H, Kolářová H, Lokvencová K, Honzík T, Zeman J, Hansíková H, Tesařová M. Štufková H, et al. Among authors: tesarova m. Genes (Basel). 2022 Jul 14;13(7):1245. doi: 10.3390/genes13071245. Genes (Basel). 2022. PMID: 35886028 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: tesarova m. 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.
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S. Cízková A, et al. Among authors: tesarova m. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
138 results