Publications
- 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
- 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
- Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome2019 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease2019 | First Faculty of Medicine, Second Faculty of Medicine
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | Second Faculty of Medicine
- 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
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | Second Faculty of Medicine
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