Publications
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | Second Faculty of Medicine
- Heat shock protein gene expression profile may differentiate between rheumatoid arthritis, osteoarthritis, and healthy controls2011 | First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Central Library of Charles University, Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | Second Faculty of Medicine
- In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2022 | First Faculty of Medicine, Second Faculty of Medicine
- Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2021 | First Faculty of Medicine, Second Faculty of Medicine
- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | Second Faculty of Medicine
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients2021 | Second Faculty of Medicine
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