Study programme
Classes
Publications
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | Second Faculty of Medicine
- Frontal lobe epilepsy with atypical seizure semiology resembling shuddering attacks or wet dog shake seizures2012 | Second Faculty of Medicine
- Corneal Ulceration Complicating Surgical Correction of Ptosis in Patient with Kearns-Sayre Syndrome - a Case Report2011 | Second Faculty of Medicine
- Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients2006 | Second Faculty of Medicine
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)2006 | Second Faculty of Medicine
- Unexpected sudden death caused by medullary brain lesions involves all age groups and may include 'sudden infant death syndrome' as a subset2005 | Second Faculty of Medicine, Third Faculty of Medicine
- Molecular-pathologic and genetic diagnostics of limb girdle muscular dystrophy LGMD2A: presentation of first cases diagnosed in the Czech Republic2004 | Second Faculty of Medicine
- Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome2004 | Second Faculty of Medicine
- Life-saving epilepsy surgery for status epilepticus caused by cortical dysplasia2002 | Second Faculty of Medicine
- 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
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