Vondráček P - Search Results

1

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.

2

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.

Chrobáková T, Hermanová M, Kroupová I, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Stanek J, Havlová M, Fajkusová L. Chrobáková T, et al. Among authors: vondracek p. Neuromuscul Disord. 2004 Oct;14(10):659-65. doi: 10.1016/j.nmd.2004.05.005. Neuromuscul Disord. 2004. PMID: 15351423

3

X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.

Vondracek P, Seeman P, Hermanova M, Fajkusova L. Vondracek P, et al. Muscle Nerve. 2005 Feb;31(2):252-5. doi: 10.1002/mus.20166. Muscle Nerve. 2005. PMID: 15468313

4

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.

Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L. Hermanová M, et al. Among authors: vondracek p. Muscle Nerve. 2006 Mar;33(3):424-32. doi: 10.1002/mus.20480. Muscle Nerve. 2006. PMID: 16372320

5

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

Stehlíková K, Zapletalová E, Sedlácková J, Hermanová M, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Vohánka S, Fajkus J, Fajkusová L. Stehlíková K, et al. Among authors: vondracek p. Neuromuscul Disord. 2007 Feb;17(2):143-7. doi: 10.1016/j.nmd.2006.10.001. Epub 2006 Dec 8. Neuromuscul Disord. 2007. PMID: 17157502

6

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Blakely EL, He L, Turnbull DM, Taylor RW, Tajsharghi H. Vondracek P, et al. Eur J Paediatr Neurol. 2007 Nov;11(6):381-4. doi: 10.1016/j.ejpn.2007.01.010. Epub 2007 Mar 29. Eur J Paediatr Neurol. 2007. PMID: 17395506

7

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

8

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

9

Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy.

Vondracek P, Hermanova M, Sedlackova J, Fajkusova L, Stary D, Michenkova A, Gaillyova R, Seeman P, Mazanec R. Vondracek P, et al. Eur J Neurol. 2007 Oct;14(10):1182-5. doi: 10.1111/j.1468-1331.2007.01917.x. Eur J Neurol. 2007. PMID: 17880576

10

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

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