Publications
- Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder2022 | Second Faculty of Medicine
- Genetic findings in Czech patients with limb girdle muscular dystrophy2023 | Second Faculty of Medicine, First Faculty of Medicine
- Novel MECR mutation in a Czech patient with childhood-onset dystonia, optic atrophy, and basal ganglia abnormality2022 | Second Faculty of Medicine, Faculty of Physical Education and Sport, Centre for Knowledge and Technology Transfer
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | Second Faculty of Medicine, First Faculty of Medicine
- Neurology2021 | Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
- CANVAS - a newly identified genetic cause of late-onset ataxia. Description of the first cases in the Czech Republic2021 | Second Faculty of Medicine, First Faculty of Medicine
- Congenital fibrosis of external oculomotor muscles in a Czech family and its molecular genetic cause2021 | Second Faculty of Medicine, First Faculty of Medicine
- Neuropsychiatry: a clinical guide for outpatient and clinical practice2020 | Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
- Dětská mozková obrna2020 | Second Faculty of Medicine
- Neurodegenerative disorders2019 | Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
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