Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | First Faculty of Medicine, Second Faculty of Medicine
- Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome2020 | Second Faculty of Medicine
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene2012 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- 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
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