Houstkova H - Search Results

1

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: houstkova h. 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

2

Genetic defects of cytochrome c oxidase assembly.

Pecina P, Houstková H, Hansíková H, Zeman J, Houstek J. Pecina P, et al. Among authors: houstkova h. Physiol Res. 2004;53 Suppl 1:S213-23. Physiol Res. 2004. PMID: 15119951 Free article. Review.

3

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.

Pecina P, Capková M, Chowdhury SK, Drahota Z, Dubot A, Vojtísková A, Hansíková H, Houst'ková H, Zeman J, Godinot C, Houstek J. Pecina P, et al. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. doi: 10.1016/s0925-4439(03)00127-3. Biochim Biophys Acta. 2003. PMID: 12943968 Free article.

4

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family.

Kaplanová V, Zeman J, Hansíková H, Cerná L, Houst'ková H, Misovicová N, Houstek J. Kaplanová V, et al. J Neurol Sci. 2004 Aug 30;223(2):149-55. doi: 10.1016/j.jns.2004.05.001. J Neurol Sci. 2004. PMID: 15337616

5

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies.

Houstek J, Klement P, Hermanská J, Antonická H, Houstková H, Stratilová L, Wanders RJ, Zeman J. Houstek J, et al. Among authors: houstkova h. Prenat Diagn. 1999 Jun;19(6):552-8. doi: 10.1002/(sici)1097-0223(199906)19:6<552::aid-pd588>3.0.co;2-c. Prenat Diagn. 1999. PMID: 10416972

6

Clinical Heterogeneity, Tissue Distribution, and Intergenerational Segregation of mtDNA Mutation A3243G.

Tesarova M, Hansikova H, Kytnarova J, Houstkova H, Bohm M, Cerna L, Zeman J, Houstek J. Tesarova M, et al. Among authors: houstkova h. Toxicol Mech Methods. 2004;14(1-2):79-84. doi: 10.1080/15376520490257527. Toxicol Mech Methods. 2004. PMID: 20021128

7

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.

Houstĕk J, Klement P, Hermanská J, Houstková H, Hansíková H, Van den Bogert C, Zeman J. Houstĕk J, et al. Among authors: houstkova h. Biochim Biophys Acta. 1995 Jun 9;1271(2-3):349-57. doi: 10.1016/0925-4439(95)00063-a. Biochim Biophys Acta. 1995. PMID: 7605802 Free article.

8

A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.

Williams SL, Taanman JW, Hansíková H, Houst'ková H, Chowdhury S, Zeman J, Houstek J. Williams SL, et al. Mol Genet Metab. 2001 Aug;73(4):340-3. doi: 10.1006/mgme.2001.3206. Mol Genet Metab. 2001. PMID: 11509016

9

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry.

Pecina P, Houšťková H, Mráček T, Pecinová A, Nůsková H, Tesařová M, Hansíková H, Janota J, Zeman J, Houštěk J. Pecina P, et al. Among authors: houstkova h. BBA Clin. 2014 Oct 1;2:62-71. doi: 10.1016/j.bbacli.2014.09.003. eCollection 2014 Dec. BBA Clin. 2014. PMID: 26675066 Free PMC article.

10

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

Antonická H, Floryk D, Klement P, Stratilová L, Hermanská J, Houstková H, Kalous M, Drahota Z, Zeman J, Houstek J. Antonická H, et al. Among authors: houstkova h. Biochem J. 1999 Sep 15;342 Pt 3(Pt 3):537-44. Biochem J. 1999. PMID: 10477264 Free PMC article.

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