Publications
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?2021 | Second Faculty of Medicine
- Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia2021 | Second Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine
- Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers2020 | Second Faculty of Medicine
- Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant2020 | Second Faculty of Medicine
- Genetics of hereditary spastic paraplegias2019 | Second Faculty of Medicine
- SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia2016 | Second Faculty of Medicine
- Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 72024 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Genetic testing in children enrolled in epilepsy surgery program. A real-life study2023 | Second Faculty of Medicine, Central Library of Charles University
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