- 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 | 1. lékařská fakulta
- Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C2016 | 1. lékařská fakulta
- NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts2023 | 1. lékařská fakulta
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | 1. lékařská fakulta
- A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C2021 | 1. lékařská fakulta
- Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes2024 | 2. lékařská fakulta