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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium; Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F. Cirak S, et al. Among authors: vondracek p. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3. Brain. 2013. PMID: 23288328 Free PMC article.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K, Skálová D, Zídková J, Mrázová L, Vondráček P, Mazanec R, Voháňka S, Haberlová J, Hermanová M, Zámečník J, Souček O, Ošlejšková H, Dvořáčková N, Solařová P, Fajkusová L. Stehlíková K, et al. Among authors: vondracek p. BMC Neurol. 2014 Aug 19;14:154. doi: 10.1186/s12883-014-0154-7. BMC Neurol. 2014. PMID: 25135358 Free PMC article.
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: vondracek p. Clin Genet. 2017 Mar;91(3):463-469. doi: 10.1111/cge.12839. Epub 2016 Sep 26. Clin Genet. 2017. PMID: 27447704
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D, Zídková J, Voháňka S, Mazanec R, Mušová Z, Vondráček P, Mrázová L, Kraus J, Réblová K, Fajkusová L. Skálová D, et al. Among authors: vondracek p. PLoS One. 2013 Dec 11;8(12):e82549. doi: 10.1371/journal.pone.0082549. eCollection 2013. PLoS One. 2013. PMID: 24349310 Free PMC article.
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: vondracek p. 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
GDAP1 mutations in Czech families with early-onset CMT.
Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P. Baránková L, et al. Among authors: vondracek p. Neuromuscul Disord. 2007 Jun;17(6):482-9. doi: 10.1016/j.nmd.2007.02.010. Epub 2007 Apr 11. Neuromuscul Disord. 2007. PMID: 17433678
44 results