Publications
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure2009 | First Faculty of Medicine
- Retrospective sequence analysis of the human PRNP gene from the formaldehyde-fixed paraffin-embedded tissues: Report of two cases of Creutzfeldt-Jakob disease2006 | First Faculty of Medicine, Central Library of Charles University
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome2006 | First Faculty of Medicine
- Retrospective sequence analysis of the human PRNP gene from the formaldehyde-fixed paraffin-embedded tissues: Report of two cases of Creutzfeldt-Jakob disease2006 | Faculty of Physical Education and Sport
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency2022 | First Faculty of Medicine, Central Library of Charles University
- 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
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