Publikace
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | 2. lékařská fakulta
- Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy2011 | 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
- Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey2023 | 2. lékařská fakulta
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | 2. lékařská fakulta
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort2022 | 2. lékařská fakulta
- Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease2022 | 2. lékařská fakulta
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