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

478 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Kubánek M, Schimerová T, Piherová L, Brodehl A, Krebsová A, Ratnavadivel S, Stanasiuk C, Hansíková H, Zeman J, Paleček T, Houštěk J, Drahota Z, Nůsková H, Mikešová J, Zámečník J, Macek M Jr, Ridzoň P, Malusková J, Stránecký V, Melenovský V, Milting H, Kmoch S. Kubánek M, et al. Among authors: zeman j. J Clin Med. 2020 Mar 29;9(4):937. doi: 10.3390/jcm9040937. J Clin Med. 2020. PMID: 32235386 Free PMC article.
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J, Hansikova H. Ondruskova N, et al. Among authors: zeman j. J Inherit Metab Dis. 2020 Jul;43(4):694-700. doi: 10.1002/jimd.12237. Epub 2020 Apr 7. J Inherit Metab Dis. 2020. PMID: 32216104 Free PMC 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: zeman j. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova S, Magner M, Kucerova-Vidrova V, Vondrackova A, Stranecky V, Pristoupilova A, Zamecnik J, Hansikova H, Zeman J, Tesarova M, Honzik T. Mazurova S, et al. Among authors: zeman j. Cardiol Young. 2017 Jul;27(5):936-944. doi: 10.1017/S1047951116001876. Epub 2016 Nov 14. Cardiol Young. 2017. PMID: 27839525 Review.
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Kulhánek J, Brožová K, Hansíková H, Vondráčková A, Stránecký V, Šenkyřík J, Kmoch S, Zeman J, Honzík T, Tesařová M. Kulhánek J, et al. Among authors: zeman j. Neurol Neurochir Pol. 2019;53(5):369-376. doi: 10.5603/PJNNS.a2019.0042. Epub 2019 Oct 2. Neurol Neurochir Pol. 2019. PMID: 31577365
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S. Cízková A, et al. Among authors: zeman j. BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38. BMC Genomics. 2008. PMID: 18221507 Free PMC article.
478 results