Publications
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- 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
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | Second Faculty of Medicine
- Hereditary Ulceromutilating Sensory Neuropathy - Clinical, Electrophysiological and Molecular Genetic Study of Three Families2014 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | Second Faculty of Medicine, First 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
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | Second Faculty of Medicine
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
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