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486 results

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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.
RFT1-CDG in adult siblings with novel mutations.
Ondruskova N, Vesela K, Hansikova H, Magner M, Zeman J, Honzik T. Ondruskova N, et al. Among authors: zeman j. Mol Genet Metab. 2012 Dec;107(4):760-2. doi: 10.1016/j.ymgme.2012.10.002. Epub 2012 Oct 13. Mol Genet Metab. 2012. PMID: 23111317
A new case of ALG8 deficiency (CDG Ih).
Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. Vesela K, et al. Among authors: zeman j. J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. J Inherit Metab Dis. 2009. PMID: 19688606 Free article. Review.
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.
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
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J. Honzík T, et al. Among authors: zeman j. Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. Arch Dis Child. 2010. PMID: 20335238 Free article.
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ. Guillard M, et al. Among authors: zeman j. J Inherit Metab Dis. 2011 Aug;34(4):901-6. doi: 10.1007/s10545-011-9311-y. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431619 Free PMC article.
486 results