Publications
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy2011 | Second Faculty of Medicine
- Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease2010 | Second Faculty of Medicine
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | Second Faculty of Medicine
- Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial2024 | Second Faculty of Medicine
- Children's pneumology2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | First Faculty of Medicine, Second Faculty of Medicine
- Genetic findings in Czech patients with limb girdle muscular dystrophy2023 | First Faculty of Medicine, Second Faculty of Medicine
- Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey2023 | Second Faculty of Medicine
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