Publications
- CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel2013 | Second Faculty of Medicine
- Možnosti přímé DNA diagnostiky Duchennovy a Beckerovy muskulární dystrofie v naší populaci1995 | Second Faculty of Medicine, Central Library of Charles University
- Examining the Correlation Between Neurofilament Levels and Clinical Features in a Friedreich Ataxia Cohort from the Czech Republic2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Friedreich's Ataxia: Treatment on the Horizon!2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Friedreich's Ataxia in the Czech Republic: New Drug and Treatment Perspectives2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Friedreichova ataxie v ČR - předběžné výsledky komplexního zhodnocení 25 pacientů2022 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Zavedení inovativních terapií Friedreichovy ataxie2022 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Correlation of genotype, phenotype and mitochondrial metabolism of patients with Friedreich's ataxia with the aim of implementing innovative therapies2022 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- CANVAS - a newly identified genetic cause of late-onset ataxia. Description of the first cases in the Czech Republic2021 | First Faculty of Medicine, Second Faculty of Medicine
- Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome2019 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
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