Jesina P - Search Results

1

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. Among authors: jesina p. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385

2

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. Biochem J. 2004 Nov 1;383(Pt. 3):561-71. doi: 10.1042/BJ20040407. Biochem J. 2004. PMID: 15265003 Free PMC article.

3

Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.

Honzík T, Drahota Z, Böhm M, Jesina P, Mrácek T, Paul J, Zeman J, Houstek J. Honzík T, et al. Among authors: jesina p. Placenta. 2006 Apr-May;27(4-5):348-56. doi: 10.1016/j.placenta.2005.03.010. Epub 2005 Jun 9. Placenta. 2006. PMID: 15949844

4

Deficiency of mitochondrial ATP synthase of nuclear genetic origin.

Sperl W, Jesina P, Zeman J, Mayr JA, Demeirleir L, VanCoster R, Pícková A, Hansíková H, Houst'ková H, Krejcík Z, Koch J, Smet J, Muss W, Holme E, Houstek J. Sperl W, et al. Among authors: jesina p. Neuromuscul Disord. 2006 Dec;16(12):821-9. doi: 10.1016/j.nmd.2006.08.008. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17052906

5

Mitochondrial membrane potential and ATP production in primary disorders of ATP synthase.

Vojtísková A, Jesina P, Kalous M, Kaplanová V, Houstek J, Tesarová M, Fornůsková D, Zeman J, Dubot A, Godinot C. Vojtísková A, et al. Among authors: jesina p. Toxicol Mech Methods. 2004;14(1-2):7-11. doi: 10.1080/15376520490257347. Toxicol Mech Methods. 2004. PMID: 20021115

6

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: jesina p. Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. Arch Dis Child. 2010. PMID: 20335238 Free article.

7

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J. Mayr JA, et al. Among authors: jesina p. Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21. Hum Mol Genet. 2010. PMID: 20566710

8

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

Magner M, Szentiványi K, Svandová I, Ješina P, Tesařová M, Honzík T, Zeman J. Magner M, et al. Among authors: jesina p. Eur J Paediatr Neurol. 2011 Mar;15(2):101-8. doi: 10.1016/j.ejpn.2010.10.001. Epub 2010 Nov 12. Eur J Paediatr Neurol. 2011. PMID: 21075023

9

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T. Magner M, et al. Among authors: jesina p. Prague Med Rep. 2011;112(1):18-28. Prague Med Rep. 2011. PMID: 21470495

10

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Honzík T, Magner M, Krijt J, Sokolová J, Vugrek O, Belužić R, Barić I, Hansíkova H, Elleder M, Veselá K, Bauerová L, Ondrušková N, Ješina P, Zeman J, Kožich V. Honzík T, et al. Among authors: jesina p. Mol Genet Metab. 2012 Nov;107(3):611-3. doi: 10.1016/j.ymgme.2012.08.014. Epub 2012 Aug 23. Mol Genet Metab. 2012. PMID: 22959829

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