- NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts2023 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Psychiatric manifestations of Niemann-Pick disease type C2011 | First Faculty of Medicine
- Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years2014 | First Faculty of Medicine
- Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics2020 | First Faculty of Medicine
- Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C2016 | First Faculty of Medicine
- Consensus clinical management guidelines for Niemann-Pick disease type C2018 | First Faculty of Medicine
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine