Publikace
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | 2. lékařská fakulta
- Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A2017 | 2. lékařská fakulta
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | 2. lékařská fakulta
- Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom2015 | 2. lékařská fakulta
- Hereditární neuropatie +12015 | 2. lékařská fakulta
- 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 | 2. lékařská fakulta
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy2013 | 2. lékařská fakulta
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy2011 | 2. lékařská fakulta
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