Publications
- Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism2016 | Second Faculty of Medicine
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | Second Faculty of Medicine
- Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients2013 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- 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
- Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene2009 | Second Faculty of Medicine
- The brain MR imaging in patients with myotonic dystrophy DM 12007 | Second Faculty of Medicine
- DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR1998 | Second Faculty of Medicine
- 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
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