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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: kaplanova v. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
Expression and processing of the TMEM70 protein.
Hejzlarová K, Tesařová M, Vrbacká-Čížková A, Vrbacký M, Hartmannová H, Kaplanová V, Nosková L, Kratochvílová H, Buzková J, Havlíčková V, Zeman J, Kmoch S, Houštěk J. Hejzlarová K, et al. Among authors: kaplanova v. Biochim Biophys Acta. 2011 Jan;1807(1):144-9. doi: 10.1016/j.bbabio.2010.10.005. Epub 2010 Oct 16. Biochim Biophys Acta. 2011. PMID: 20937241 Free article.
Nuclear genetic defects of mitochondrial ATP synthase.
Hejzlarová K, Mráček T, Vrbacký M, Kaplanová V, Karbanová V, Nůsková H, Pecina P, Houštěk J. Hejzlarová K, et al. Among authors: kaplanova v. Physiol Res. 2014;63(Suppl 1):S57-71. doi: 10.33549/physiolres.932643. Physiol Res. 2014. PMID: 24564666 Free article. Review.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S. Hartmannová H, et al. Among authors: kaplanova v. Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. doi: 10.1093/hmg/ddw245. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466185
16 results