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Items: 1 to 20 of 85

1.

[Mitochondrial metabolism in mammalian spermatozoa--a minireview].

Spácilová J, Sládková J, Macáková M, Hansíková H.

Cesk Fysiol. 2015;64(2):84-9. Czech.

PMID:
26852526
2.

The mammalian homologue of yeast AFG1 ATPase (Lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.

Cesnekova J, Rodinova M, Hansikova H, Houstek J, Zeman J, Stiburek L.

Biochem J. 2016 Jan 12. pii: BJ20151029. [Epub ahead of print]

PMID:
26759378
3.

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.

BBA Clin. 2014 Oct 1;2:62-71. doi: 10.1016/j.bbacli.2014.09.003. eCollection 2014 Dec.

4.

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders.

Sládková J, Spáčilová J, Čapek M, Tesařová M, Hansíková H, Honzík T, Martínek J, Zámečník J, Kostková O, Zeman J.

Ultrastruct Pathol. 2015;39(5):340-50. doi: 10.3109/01913123.2015.1054013. Epub 2015 Jul 27.

PMID:
26214044
5.

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.

Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H.

Prague Med Rep. 2015;116(2):73-86. doi: 10.14712/23362936.2015.48.

6.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. No abstract available.

PMID:
25778942
7.

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats.

Cahova M, Chrastina P, Hansikova H, Drahota Z, Trnovska J, Skop V, Spacilova J, Malinska H, Oliyarnyk O, Papackova Z, Palenickova E, Kazdova L.

Appl Physiol Nutr Metab. 2015 Mar;40(3):280-91. doi: 10.1139/apnm-2014-0163.

PMID:
25723909
8.

[Psychiatric disturbances in five patients with MELAS syndrome].

Magner M, Honzik T, Tesarova M, Dvorakova V, Hansiková H, Raboch J, Zeman J.

Psychiatr Pol. 2014 Sep-Oct;48(5):1035-45. Polish.

PMID:
25639022
9.

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

Rodinová M, Trefilová E, Honzík T, Tesařová M, Zeman J, Hansíková H.

Folia Biol (Praha). 2014;60(6):268-74.

10.

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

Martins C, Hůlková H, Dridi L, Dormoy-Raclet V, Grigoryeva L, Choi Y, Langford-Smith A, Wilkinson FL, Ohmi K, DiCristo G, Hamel E, Ausseil J, Cheillan D, Moreau A, Svobodová E, Hájková Z, Tesařová M, Hansíková H, Bigger BW, Hrebícek M, Pshezhetsky AV.

Brain. 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6. Erratum in: Brain. 2015 Jul;138(Pt 7):e366.

11.

TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. Erratum in: J Inherit Metab Dis. 2015 May;38(3):583-4. Morava-Kozicz, Eva [corrected to Morava, Eva].

PMID:
25326274
12.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

Park EJ, Grabińska KA, Guan Z, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Sovová J, Jozsef L, Ondrušková N, Hansíková H, Honzík T, Zeman J, Hůlková H, Wen R, Kmoch S, Sessa WC.

Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24.

13.

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H.

Neuro Endocrinol Lett. 2014;35(2):137-41.

PMID:
24878975
14.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ.

Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24.

15.

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.

Prague Med Rep. 2013;114(3):139-53.

PMID:
24093814
16.

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.

Eur J Hum Genet. 2014 Mar;22(3):431-4. doi: 10.1038/ejhg.2013.148. Epub 2013 Jul 10.

17.

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M.

Acta Ophthalmol. 2013 May;91(3):e225-31. doi: 10.1111/aos.12038. Epub 2013 Feb 7.

18.

A transgenic minipig model of Huntington's Disease.

Baxa M, Hruska-Plochan M, Juhas S, Vodicka P, Pavlok A, Juhasova J, Miyanohara A, Nejime T, Klima J, Macakova M, Marsala S, Weiss A, Kubickova S, Musilova P, Vrtel R, Sontag EM, Thompson LM, Schier J, Hansikova H, Howland DS, Cattaneo E, DiFiglia M, Marsala M, Motlik J.

J Huntingtons Dis. 2013;2(1):47-68. doi: 10.3233/JHD-130001.

PMID:
25063429
19.

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.

Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A.

Int Heart J. 2012;53(6):383-7.

20.

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

Honzik T, Tesarova M, Vinsova K, Hansikova H, Magner M, Kratochvilova H, Zamecnik J, Zeman J, Jesina P.

Mol Genet Metab. 2013 Jan;108(1):102-5. doi: 10.1016/j.ymgme.2012.11.002. Epub 2012 Nov 13.

PMID:
23206802
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