Publications
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | 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
- 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
- Hereditary neuropathy +12015 | 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
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy2013 | Second Faculty of Medicine
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy2011 | Second Faculty of Medicine
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