Publications
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- MRI in sarcoglycanopathies: a large international cohort study2018 | Second Faculty of Medicine
- Czech National Guillain-Barre Syndrome Registry2017 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A2017 | Second Faculty of Medicine
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | Second Faculty of Medicine
- Spinal muscular atrophy - diagnostics, therapy, research +12016 | Second Faculty of Medicine
- Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies2014 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic2014 | Second Faculty of Medicine
- Health-Related Quality of Life in Children and Adolescents With Spinal Muscular Atrophy in the Czech Republic2014 | 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
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