Publikace
- Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A2017 | 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
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | 2. lékařská fakulta
- Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease2010 | 2. lékařská fakulta
- Mutations in the LMNA gene do not cause axonal CMT in Czech patients2009 | 2. lékařská fakulta
- Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial2024 | 2. lékařská fakulta
- Dětská pneumologie2023 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu, 3. lékařská fakulta
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Genetic findings in Czech patients with limb girdle muscular dystrophy2023 | 1. lékařská fakulta, 2. lékařská fakulta
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