Lenka Fajkusová

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

Táňa Chrobáková, Markéta Hermanová, Iva Kroupová et al. · Neuromuscular Disorders · 2004 · 52 citations

Mendelian Disorder, Genetic Disorder, Calpain3 Mrna +10

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

Markéta Hermanová, Eva Zapletalová, Jana Sedláčková et al. · Muscle & Nerve · 2005 · 51 citations

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

Radan Goldmann, Lukáš Tichý, Tomáš Freiberger et al. · BMC Medical Genetics · 2010 · 49 citations · Full text

The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations

Lukáš Tichý, Tomáš Freiberger, Petra Zapletalová et al. · Atherosclerosis · 2012 · 47 citations

Epidemiology, Cardiovascular Disease, Genetics +11

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

Lenka Fajkusová, Zdeněk Lukáš, Miroslava Tvrdı́ková et al. · Neuromuscular Disorders · 2001 · 41 citations

Mendelian Disorder, Genetic Disorder, Genetics +10