Publications
- Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome2020 | Second Faculty of Medicine
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | 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
- 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
- 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
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | Second Faculty of Medicine
- Hereditary neuropathy +12015 | Second Faculty of Medicine
Loading network view...