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Page 1
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J, Vondrácek P, Hermanová M, Zámecník J, Hrubá Z, Haberlová J, Kraus J, Maríková T, Hedvicáková P, Vohánka S, Fajkusová L. Sedlácková J, et al. Among authors: vondracek p. Neuromuscul Disord. 2009 Nov;19(11):749-53. doi: 10.1016/j.nmd.2009.08.011. Epub 2009 Sep 26. Neuromuscul Disord. 2009. PMID: 19783145
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
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.
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyová R, Maríková T, Kalina Z, Jüttnerová V, Fajkus J, Fajkusová L. Zapletalová E, et al. Among authors: vondracek p. Neuromuscul Disord. 2007 Jun;17(6):476-81. doi: 10.1016/j.nmd.2007.03.003. Epub 2007 May 1. Neuromuscul Disord. 2007. PMID: 17475491
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.
44 results