Kluckova D - Search Results

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Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A. Kluckova D, et al. Epilepsy Res. 2021 Oct;176:106699. doi: 10.1016/j.eplepsyres.2021.106699. Epub 2021 Jun 23. Epilepsy Res. 2021. PMID: 34229227

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.

Kluckova D, Kolnikova M, Lacinova L, Jurkovicova-Tarabova B, Foltan T, Demko V, Kadasi L, Ficek A, Soltysova A. Kluckova D, et al. Sci Rep. 2020 Jun 24;10(1):10288. doi: 10.1038/s41598-020-67215-y. Sci Rep. 2020. PMID: 32581296 Free PMC article.

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Pecimonova M, Kluckova D, Csicsay F, Reblova K, Krahulec J, Procházkova D, Skultety L, Kadasi L, Soltysova A. Pecimonova M, et al. Among authors: kluckova d. Genes (Basel). 2019 Jun 15;10(6):459. doi: 10.3390/genes10060459. Genes (Basel). 2019. PMID: 31208052 Free PMC article.

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