Publications
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- uchenne muscular dystrophy2019 | Second Faculty of Medicine
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | Second Faculty of Medicine
- MRI in sarcoglycanopathies: a large international cohort study2018 | Second Faculty of Medicine
- Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic2017 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports2017 | Second Faculty of Medicine
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | 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
- 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
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