- Quantitative analysis of CAPN3 transcripts in LGMD2A patients: Involvement of nonsense-mediated mRNA decay2007 | Second Faculty of Medicine
- 1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiencyPublication without faculty affiliation
- Prosaposin deficiency due to 1BP deletion in SAP B domain: the evidence for functional SAP A deficiency due to nonsense-mediated mRNA decayPublication without faculty affiliation
- Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome2009 | Second Faculty of Medicine
- Point mutations in Czech DMD/BMD patients and their phenotypic outcome2009 | Second Faculty of Medicine
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | First Faculty of Medicine
- Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients2006 | Second Faculty of Medicine
- Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease2017 | First Faculty of Medicine, Third Faculty of Medicine