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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: marikova t. 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
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: marikova t. 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
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Neupauerová J, Štěrbová K, Vlčková M, Sebroňová V, Maříková T, Krůtová M, David S, Kršek P, Žaliová M, Seeman P, Laššuthová P. Neupauerová J, et al. Among authors: marikova t. Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5. Genet Test Mol Biomarkers. 2017. PMID: 28872899
29 results