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Results: 1 to 20 of 64

1.

[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
[PubMed - in process]
2.

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome C oxidase.

Vondráčková A, Veselá K, Zeman J, Tesařová M.

Methods Mol Biol. 2015;1264:351-67. doi: 10.1007/978-1-4939-2257-4_31.

PMID:
25631028
[PubMed - in process]
3.

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.

PMID:
25629267
[PubMed - in process]
Free Article
4.

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.

PMID:
25567323
[PubMed - in process]
5.

Kentomonas gen. n., a new genus of endosymbiont-containing trypanosomatids of Strigomonadinae subfam. n.

Votýpka J, Kostygov AY, Kraeva N, Grybchuk-Ieremenko A, Tesařová M, Grybchuk D, Lukeš J, Yurchenko V.

Protist. 2014 Dec;165(6):825-38. doi: 10.1016/j.protis.2014.09.002. Epub 2014 Oct 7.

PMID:
25460233
[PubMed - in process]
6.

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-Kozicz E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2014 Oct 18. [Epub ahead of print]

PMID:
25326274
[PubMed - as supplied by publisher]
7.

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
[PubMed - indexed for MEDLINE]
8.

Ultrastructure and molecular phylogeny of four new species of monoxenous trypanosomatids from flies (Diptera: Brachycera) with redefinition of the genus Wallaceina.

Yurchenko V, Votýpka J, Tesarová M, Klepetková H, Kraeva N, Jirků M, Lukes J.

Folia Parasitol (Praha). 2014 Apr;61(2):97-112.

PMID:
24822316
[PubMed - indexed for MEDLINE]
9.

Mitochondrial membrane assembly of TMEM70 protein.

Kratochvílová H, Hejzlarová K, Vrbacký M, Mráček T, Karbanová V, Tesařová M, Gombitová A, Cmarko D, Wittig I, Zeman J, Houštěk J.

Mitochondrion. 2014 Mar;15:1-9. doi: 10.1016/j.mito.2014.02.010. Epub 2014 Feb 25.

PMID:
24576557
[PubMed - indexed for MEDLINE]
10.

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.

Sedivá A, Horváth R, Maňásek V, Gregorová A, Plevová P, Horáčková M, Tesařová M, Toplak N, Debeljak M.

Clin Genet. 2014 Dec;86(6):564-9. doi: 10.1111/cge.12323. Epub 2013 Dec 20.

PMID:
24251727
[PubMed - in process]
11.

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
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
23838601
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
23387428
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
23258140
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

[Hereditary leiomyomatosis and renal cell cancer - HLRCC/multiple cutaneous and uterine leimomyomatosis - MCUL].

Plevová P, Hladíková A, Tesařová M.

Klin Onkol. 2012;25 Suppl:S55-8. Czech.

PMID:
22920208
[PubMed - indexed for MEDLINE]
17.

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.

Kubinova K, Tesarova M, Hansikova H, Vesela K, Kuzel D, Mara M.

J Obstet Gynaecol Res. 2013 Jan;39(1):410-4. doi: 10.1111/j.1447-0756.2012.01939.x. Epub 2012 Jul 6.

PMID:
22764886
[PubMed - indexed for MEDLINE]
18.

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.

Szentiványi K, Hansíková H, Krijt J, Vinšová K, Tesařová M, Rozsypalová E, Klement P, Zeman J, Honzík T.

Prague Med Rep. 2012;113(2):136-46.

PMID:
22691284
[PubMed - indexed for MEDLINE]
Free Article
19.

Ultrastructure of hydathode trichomes of hemiparasitic Rhinanthus alectorolophus and Odontites vernus: how important is their role in physiology and evolution of parasitism in Orobanchaceae?

Těšitel J, Tesařová M.

Plant Biol (Stuttg). 2013 Jan;15(1):119-25. doi: 10.1111/j.1438-8677.2012.00610.x. Epub 2012 Jun 8.

PMID:
22676139
[PubMed - indexed for MEDLINE]
20.

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.

Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M.

J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17.

PMID:
22592081
[PubMed - indexed for MEDLINE]
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