Publications
- Hereditary neuropathy +12015 | Second Faculty of Medicine
- Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic2014 | Second Faculty of Medicine
- Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe2014 | Second Faculty of Medicine
- Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotype2009 | 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
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
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