Tesarova M - Search Results

1

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: tesarova m. 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.

2

[Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].

Tesarová M, Hansíková H, Hlavatá A, Klement P, Houst'ková H, Houstĕk J, Zeman J. Tesarová M, et al. Cas Lek Cesk. 2002 Aug 30;141(17):551-4. Cas Lek Cesk. 2002. PMID: 12404959 Czech.

3

Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects.

Wenchich L, Drahota Z, Honzík T, Hansíková H, Tesarová M, Zeman J, Houstek J. Wenchich L, et al. Among authors: tesarova m. Physiol Res. 2003;52(6):781-8. Physiol Res. 2003. PMID: 14640901 Free article.

4

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

Jesina P, Tesarová M, Fornůsková D, Vojtísková A, Pecina P, Kaplanová V, Hansíková H, Zeman J, Houstek J. Jesina P, et al. Among authors: tesarova m. Biochem J. 2004 Nov 1;383(Pt. 3):561-71. doi: 10.1042/BJ20040407. Biochem J. 2004. PMID: 15265003 Free PMC article.

5

Mitochondrial DNA depletion in Alpers syndrome.

Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J. Tesarova M, et al. Neuropediatrics. 2004 Aug;35(4):217-23. doi: 10.1055/s-2004-821081. Neuropediatrics. 2004. PMID: 15328560

6

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

Vesela K, Hansikova H, Tesarova M, Martasek P, Elleder M, Houstek J, Zeman J. Vesela K, et al. Among authors: tesarova m. Acta Paediatr. 2004 Oct;93(10):1312-7. doi: 10.1080/08035250410008761. Acta Paediatr. 2004. PMID: 15499950

7

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.

Stiburek L, Vesela K, Hansikova H, Pecina P, Tesarova M, Cerna L, Houstek J, Zeman J. Stiburek L, et al. Among authors: tesarova m. Biochem J. 2005 Dec 15;392(Pt 3):625-32. doi: 10.1042/BJ20050807. Biochem J. 2005. PMID: 16083427 Free PMC article.

8

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Böhm M, et al. Among authors: tesarova m. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326995

9

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Musova Z, Hedvicakova P, Mohrmann M, Tesarova M, Krepelova A, Zeman J, Sedlacek Z. Musova Z, et al. Among authors: tesarova m. Biochem Biophys Res Commun. 2006 Aug 18;347(1):145-9. doi: 10.1016/j.bbrc.2006.06.071. Epub 2006 Jun 21. Biochem Biophys Res Commun. 2006. PMID: 16808900

10

Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA.

Brantová O, Tesarová M, Hansíková H, Elleder M, Zeman J, Sládková J. Brantová O, et al. Among authors: tesarova m. Ultrastruct Pathol. 2006 Jul-Aug;30(4):239-45. doi: 10.1080/01913120600820112. Ultrastruct Pathol. 2006. PMID: 16971348

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