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
- Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports2017 | Second Faculty of Medicine
- Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A2017 | Second Faculty of Medicine
- HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL2016 | Second Faculty of Medicine
- Spinal muscular atrophy - diagnostics, therapy, research +12016 | Second Faculty of Medicine
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- 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
- Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients2014 | Second Faculty of Medicine
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