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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: honzik t. Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. Front Genet. 2023. PMID: 37274791 Free PMC article.
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M. Vondráčková A, et al. Among authors: honzik t. Eur J Hum Genet. 2014 Mar;22(3):431-4. doi: 10.1038/ejhg.2013.148. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838601 Free PMC article.
GPD1 Deficiency - Underdiagnosed Cause of Liver Disease.
Tesarova M, Stranecky V, Konecna P, Prochazkova D, Hulkova H, Zeman J, Honzik T, Magner M. Tesarova M, et al. Among authors: honzik t. Indian J Pediatr. 2021 Jan;88(1):80-81. doi: 10.1007/s12098-020-03385-x. Epub 2020 Jun 26. Indian J Pediatr. 2021. PMID: 32591995 No abstract available.
Novel mutations in the TAZ gene in patients with Barth syndrome.
Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T. Mazurová S, et al. Among authors: honzik t. Prague Med Rep. 2013;114(3):139-53. doi: 10.14712/23362936.2014.16. Prague Med Rep. 2013. PMID: 24093814
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
Stehlíková K, Skálová D, Zídková J, Haberlová J, Voháňka S, Mazanec R, Mrázová L, Vondráček P, Ošlejšková H, Zámečník J, Honzík T, Zeman J, Magner M, Šišková D, Langová M, Gregor V, Godava M, Smolka V, Fajkusová L. Stehlíková K, et al. Among authors: honzik t. Clin Genet. 2017 Mar;91(3):463-469. doi: 10.1111/cge.12839. Epub 2016 Sep 26. Clin Genet. 2017. PMID: 27447704
118 results