Kolářová H - Search Results

1

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.

Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H. Stenton SL, et al. Among authors: kolarova h. Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052. Brain. 2022. PMID: 35148383 Free PMC article.

2

Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene.

Kolářová H, Tesařová M, Švecová Š, Stránecký V, Přistoupilová A, Zima T, Uhrová J, Volgina SY, Zeman J, Honzík T. Kolářová H, et al. Folia Biol (Praha). 2014;60(5):235-43. Folia Biol (Praha). 2014. PMID: 25863041 Free article.

3

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

Kolarova H, Liskova P, Tesarova M, Kucerova Vidrova V, Forgac M, Zamecnik J, Hansikova H, Honzik T. Kolarova H, et al. Ophthalmic Genet. 2016 Dec;37(4):419-423. doi: 10.3109/13816810.2015.1092045. Epub 2016 Feb 19. Ophthalmic Genet. 2016. PMID: 26894521

4

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

Dvorakova V, Kolarova H, Magner M, Tesarova M, Hansikova H, Zeman J, Honzik T. Dvorakova V, et al. Among authors: kolarova h. Mol Genet Metab. 2016 Aug;118(4):288-95. doi: 10.1016/j.ymgme.2016.06.003. Epub 2016 Jun 6. Mol Genet Metab. 2016. PMID: 27296531

5

OPA1 analysis in an international series of probands with bilateral optic atrophy.

Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M. Liskova P, et al. Among authors: kolarova h. Acta Ophthalmol. 2017 Jun;95(4):363-369. doi: 10.1111/aos.13285. Epub 2016 Nov 17. Acta Ophthalmol. 2017. PMID: 27860320 Free article.

6

[Gene Therapy for Inherited RETINAL AND OPTIC NERVE Disorders: Current Knowledge].

Ďuďáková Ľ, Kousal B, Kolářová H, Hlavatá L, Lišková P. Ďuďáková Ľ, et al. Among authors: kolarova h. Cesk Slov Oftalmol. 2016 Fall;72(4):128-136. Cesk Slov Oftalmol. 2016. PMID: 27860478 Free article. Review. Czech.

7

Peripapillary microcirculation in Leber hereditary optic neuropathy.

Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P. Kousal B, et al. Among authors: kolarova h. Acta Ophthalmol. 2019 Feb;97(1):e71-e76. doi: 10.1111/aos.13817. Epub 2018 Sep 26. Acta Ophthalmol. 2019. PMID: 30259673 Free article.

8

Charles Bonnet syndrome in Leber's hereditary optic neuropathy.

Kolarova H, Catarino CB, Priglinger C, Klopstock T. Kolarova H, et al. J Neurol. 2019 Mar;266(3):777-779. doi: 10.1007/s00415-019-09205-3. Epub 2019 Jan 28. J Neurol. 2019. PMID: 30687896 No abstract available.

9

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M. Danhelovska T, et al. Among authors: kolarova h. BMC Pediatr. 2020 Jan 29;20(1):41. doi: 10.1186/s12887-020-1912-x. BMC Pediatr. 2020. PMID: 31996177 Free PMC article.

10

Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.

Příhodová I, Nepožitek J, Kelifová S, Dostálová S, Kemlink D, Šonka K, Tesařová M, Honzík T, Kolářová H. Příhodová I, et al. Among authors: kolarova h. J Sleep Res. 2021 Apr;30(2):e13051. doi: 10.1111/jsr.13051. Epub 2020 Jun 10. J Sleep Res. 2021. PMID: 32524698

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