Mazanec R - Search Results

1

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: mazanec r. 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

2

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.

Seeman P, Mazanec R, Marikova T, Rautenstrauss B. Seeman P, et al. Among authors: mazanec r. Ann N Y Acad Sci. 1999 Sep 14;883:485-9. Ann N Y Acad Sci. 1999. PMID: 10586280 No abstract available.

3

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: mazanec r. Neuromuscul Disord. 2004 Oct;14(10):659-65. doi: 10.1016/j.nmd.2004.05.005. Neuromuscul Disord. 2004. PMID: 15351423

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: mazanec r. Muscle Nerve. 2006 Mar;33(3):424-32. doi: 10.1002/mus.20480. Muscle Nerve. 2006. PMID: 16372320

5

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: mazanec r. 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

6

Muscle lymphocytic infiltrates in thymoma-associated myasthenia gravis are phenotypically different from those in polymyositis.

Zamecnik J, Vesely D, Jakubicka B, Simkova L, Pitha J, Schutzner J, Mazanec R, Vogel H. Zamecnik J, et al. Among authors: mazanec r. Neuromuscul Disord. 2007 Dec;17(11-12):935-42. doi: 10.1016/j.nmd.2007.05.010. Epub 2007 Jul 24. Neuromuscul Disord. 2007. PMID: 17651972

7

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. Among authors: mazanec r. Eur J Neurol. 2007 Oct;14(10):1182-5. doi: 10.1111/j.1468-1331.2007.01917.x. Eur J Neurol. 2007. PMID: 17880576

8

Atrophy of type II fibres in myasthenia gravis muscle in thymectomized patients: steroid-induced change with prognostic impact.

Zamecnik J, Vesely D, Jakubicka B, Cibula A, Pitha J, Schutzner J, Mazanec R. Zamecnik J, et al. Among authors: mazanec r. J Cell Mol Med. 2009 Aug;13(8B):2008-2018. doi: 10.1111/j.1582-4934.2008.00431.x. Epub 2008 Jul 24. J Cell Mol Med. 2009. PMID: 18657229 Free PMC article.

9

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Musova Z, Mazanec R, Krepelova A, Ehler E, Vales J, Jaklova R, Prochazka T, Koukal P, Marikova T, Kraus J, Havlovicova M, Sedlacek Z. Musova Z, et al. Among authors: mazanec r. Am J Med Genet A. 2009 Jul;149A(7):1365-74. doi: 10.1002/ajmg.a.32987. Am J Med Genet A. 2009. PMID: 19514047

10

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: mazanec r. 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

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