Publications
- MRI in sarcoglycanopathies: a large international cohort study2018 | Second Faculty of Medicine
- Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports2017 | Second Faculty of Medicine
- Spinal muscular atrophy in context2017 | Second Faculty of Medicine
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | Second Faculty of Medicine
- Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom2015 | 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
- Floppy baby with skin abnormality - a case report of 6 years old boy with diagnosis of congenital muscular dystrophy type Ullrich2014 | Second Faculty of Medicine
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, 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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