Publications
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- 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
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort2022 | Second Faculty of Medicine
- Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease2022 | Second Faculty of Medicine
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