Publications
- Spinal muscular atrophy in context2017 | Second Faculty of Medicine
- Spinal muscular atrophy - diagnostics, therapy, research +12016 | Second Faculty of Medicine
- REaDY - Czech Registry of Muscular Dystrophies2014 | 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
- Health-Related Quality of Life in Children and Adolescents With Spinal Muscular Atrophy in the Czech Republic2014 | Second Faculty of Medicine
- 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
- 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
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