Publications
- A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder2018 | First Faculty of Medicine
- KMT2B Rare Missense Variants in Generalized Dystonia2017 | First Faculty of Medicine
- Leber hereditary optic neuropathy2017 | First Faculty of Medicine
- DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS2011 | First Faculty of Medicine
- Beneficial Effect of Deep Brain Stimulation of GPi in a Patient with Dystonia-Deafness Phenotype2009 | First Faculty of Medicine
- SOXopathies and dystonia: Consolidation of a recurrent association2024 | First Faculty of Medicine
- Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders2023 | First Faculty of Medicine
- Effect of Intra-arrest Transport, Extracorporeal Cardiopulmonary Resuscitation, and Immediate Invasive Assessment and Treatment on Functional Neurologic Outcome in Refractory Out-of-Hospital Cardiac Arrest: A Randomized Clinical Trial2022 | First Faculty of Medicine, Central Library of Charles University, Faculty of Mathematics and Physics
- WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia2022 | First Faculty of Medicine
- Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes2022 | First Faculty of Medicine
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