Siskova D - Search Results

1

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H. Mihaylova V, et al. Among authors: siskova d. Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7. Brain. 2008. PMID: 18180250

2

A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT.

Baránková L, Sisková D, Hühne K, Vyhnálková E, Sakmaryová I, Bojar M, Rautenstrauss B, Seeman P. Baránková L, et al. Among authors: siskova d. Eur J Neurol. 2008 Jun;15(6):548-51. doi: 10.1111/j.1468-1331.2008.02104.x. Epub 2008 Apr 8. Eur J Neurol. 2008. PMID: 18410371

3

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

Brožková DŠ, Posádka J, Laššuthová P, Mazanec R, Haberlová J, Sišková D, Sakmaryová I, Neupauerová J, Seeman P. Brožková DŠ, et al. Among authors: siskova d. Mol Med Rep. 2013 Dec;8(6):1779-84. doi: 10.3892/mmr.2013.1730. Epub 2013 Oct 14. Mol Med Rep. 2013. PMID: 24126688

4

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Lassuthova P, Sišková D, Haberlová J, Sakmaryová I, Filouš A, Seeman P. Lassuthova P, et al. Among authors: siskova d. Orphanet J Rare Dis. 2014 Apr 1;9:46. doi: 10.1186/1750-1172-9-46. Orphanet J Rare Dis. 2014. PMID: 24690360 Free PMC article.

5

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P. Laššuthová P, et al. Among authors: siskova d. Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1. Clin Genet. 2011. PMID: 21291453

6

[Autosomal recessive ethnic diseases of Czech Gypsies].

Seeman P, Sisková D. Seeman P, et al. Among authors: siskova d. Cas Lek Cesk. 2006;145(7):557-60; discussion 561. Cas Lek Cesk. 2006. PMID: 16921785 Review. Czech.

7

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Stehlíková K, Skálová D, Zídková J, Haberlová J, Voháňka S, Mazanec R, Mrázová L, Vondráček P, Ošlejšková H, Zámečník J, Honzík T, Zeman J, Magner M, Šišková D, Langová M, Gregor V, Godava M, Smolka V, Fajkusová L. Stehlíková K, et al. Among authors: siskova d. Clin Genet. 2017 Mar;91(3):463-469. doi: 10.1111/cge.12839. Epub 2016 Sep 26. Clin Genet. 2017. PMID: 27447704

8

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.

Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P. Laššuthová P, et al. Among authors: siskova d. J Child Neurol. 2014 Jul;29(7):924-31. doi: 10.1177/0883073813492387. Epub 2013 Jun 14. J Child Neurol. 2014. PMID: 23771846

9

Brucellosis in pregnancy: case reports with different outcomes in an endemic region.

Bosilkovski M, Stojovski M, Siskova D, Ridov A, Kostoska E, Krstevski K. Bosilkovski M, et al. Among authors: siskova d. Acta Clin Croat. 2020 Jun;59(2):338-343. doi: 10.20471/acc.2020.59.02.18. Acta Clin Croat. 2020. PMID: 33456122 Free PMC article.

10

The influence of illness duration before diagnosis on clinical characteristics and outcome in human brucellosis.

Bosilkovski M, Siskova D, Spasovska K, Vidinic I, Dimzova M. Bosilkovski M, et al. Among authors: siskova d. Trop Doct. 2019 Jul;49(3):177-181. doi: 10.1177/0049475519846422. Epub 2019 May 6. Trop Doct. 2019. PMID: 31060447

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