Publications
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | First Faculty of Medicine
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | First Faculty of Medicine
- Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.2010 | First Faculty of Medicine
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | First Faculty of Medicine
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | First Faculty of Medicine
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | First Faculty of Medicine
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases2020 | First Faculty of Medicine
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