Záhoráková D - Search Results

1

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Záhoráková D, Langová M, Brožová K, Laštůvková J, Kalina Z, Rennerová L, Martásek P. Záhoráková D, et al. Folia Biol (Praha). 2016;62(2):67-74. doi: 10.14712/fb2016062020067. Folia Biol (Praha). 2016. PMID: 27187038 Free article.

2

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P. Zahorakova D, et al. J Hum Genet. 2007;52(4):342-348. doi: 10.1007/s10038-007-0121-x. Epub 2007 Feb 15. J Hum Genet. 2007. PMID: 17387578

3

APOE epsilon4: a potential modulation factor in Rett syndrome.

Zahorakova D, Jachymova M, Kemlink D, Baxova A, Martasek P. Zahorakova D, et al. J Child Neurol. 2010 May;25(5):546-50. doi: 10.1177/0883073809346848. Epub 2010 Feb 5. J Child Neurol. 2010. PMID: 20139413

4

Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.

Fiala O, Zahorakova D, Pospisilova L, Kucerova J, Matejckova M, Martasek P, Roth J, Ruzicka E. Fiala O, et al. Among authors: zahorakova d. PLoS One. 2014 Sep 19;9(9):e107585. doi: 10.1371/journal.pone.0107585. eCollection 2014. PLoS One. 2014. PMID: 25238391 Free PMC article.

5

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

Zahorakova D, Lelkova P, Gregor V, Magner M, Zeman J, Martasek P. Zahorakova D, et al. J Hum Genet. 2016 Jul;61(7):617-25. doi: 10.1038/jhg.2016.19. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984561

6

[Rett syndrome: clinical and molecular aspects].

Záhoráková D, Zeman J, Martásek P. Záhoráková D, et al. Cas Lek Cesk. 2007;146(8):647-52. Cas Lek Cesk. 2007. PMID: 17874730 Review. Czech.

7

Gene symbol: MECP2. Disease: Rett syndrome.

Zahorakova D, Jüttnerova V, Zeman J, Martasek P. Zahorakova D, et al. Hum Genet. 2008 Oct;124(3):315. Hum Genet. 2008. PMID: 18846663 No abstract available.

8

No association with the ETM2 locus in Czech patients with familial essential tremor.

Zahorakova D, Ulmanova O, Kemlink D, Kofrankova M, Roth J, Martasek P, Ruzicka E. Zahorakova D, et al. Neuro Endocrinol Lett. 2010;31(4):549-52. Neuro Endocrinol Lett. 2010. PMID: 20802447

9

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J. Schormair B, et al. Among authors: zahorakova d. Clin Genet. 2018 Mar;93(3):603-612. doi: 10.1111/cge.13124. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 28862745

10

A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.

Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J, Martasek P. Bzduch V, et al. Among authors: zahorakova d. Bratisl Lek Listy. 2004;105(9):299-302. Bratisl Lek Listy. 2004. PMID: 15633890

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