Publikace
- Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia2021 | 2. lékařská fakulta
- Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant2020 | 2. lékařská fakulta
- Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene2019 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | 2. lékařská fakulta
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | 2. lékařská fakulta
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, Přírodovědecká fakulta
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | 2. lékařská fakulta
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | 2. lékařská fakulta, Ústřední knihovna
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