Zámečník J - Search Results

1

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: zamecnik j. J Child Neurol. 2014 Jul;29(7):924-31. doi: 10.1177/0883073813492387. Epub 2013 Jun 14. J Child Neurol. 2014. PMID: 23771846

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

3

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

4

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: zamecnik j. 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

5

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P. Ivanova N, et al. Among authors: zamecnik j. Arch Neurol. 2007 May;64(5):706-13. doi: 10.1001/archneur.64.5.706. Arch Neurol. 2007. PMID: 17502470

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. 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

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

Haberlová J, Claeys KG, Zámecník J, De Jonghe P, Seeman P. Haberlová J, et al. Among authors: zamecnik j. J Neurol. 2008 Jun;255(6):927-8. doi: 10.1007/s00415-008-0598-z. Epub 2008 Apr 30. J Neurol. 2008. PMID: 18446315 No abstract available.

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. 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

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: zamecnik j. 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

10

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P. Schwabova J, et al. Among authors: zamecnik j. J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25. J Neurogenet. 2013. PMID: 23883322

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