- Trinucleotide Repeat Expansions and Human Genetic Disease1995 | Second Faculty of Medicine, Central Library of Charles University
- Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion2018 | First Faculty of Medicine
- Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity2018 | First Faculty of Medicine
- SCA2 trinucleotide expansion in German SCA patients1997 | Second Faculty of Medicine
- NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease2020 | First Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine
- A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats2013 | Central Library of Charles University
- Oculopharyngeal muscular dystrophy in the population of the Czech Republic2013 | Second Faculty of Medicine
- A new lineage of non-photosynthetic green algae with extreme organellar genomes2022 | Central Library of Charles University, Faculty of Science
- Huntington's Disease2010 | First Faculty of Medicine
- Differential Diagnosis of Neuroacanthocytosis2009 | First Faculty of Medicine
- Adult-onset huntington disease phenocopies2009 | First Faculty of Medicine
- New Views of Cerebellum2006 | Second Faculty of Medicine
- SCA6 is caused by moderate CAG expansion in the alpha(1A)-voltage-dependent calcium channel gene1997 | Second Faculty of Medicine
- Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy2023 | First Faculty of Medicine, Third Faculty of Medicine
- Recommendations for whole genome sequencing in diagnostics for rare diseases2022 | Second Faculty of Medicine
- Congenital Central Hypoventilation Syndrome (Ondine's Curse)2015 | Faculty of Medicine in Hradec Králové
- Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients?2004 | Second Faculty of Medicine
- Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?2021 | First Faculty of Medicine
- Huntingtin Co-Isolates with Small Extracellular Vesicles from Blood Plasma of TgHD and KI-HD Pig Models of Huntington's Disease and Human Blood Plasma2022 | First Faculty of Medicine, Central Library of Charles University, Faculty of Science
- Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia2016 | First Faculty of Medicine, Second Faculty of Medicine
- CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy2017 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport