Publications
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?2021 | First 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
- Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing2020 | First Faculty of Medicine
- Rare copy number variation in extremely impulsively violent males2019 | First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
- Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease2018 | First Faculty of Medicine, Second Faculty of Medicine
- Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans2018 | First Faculty of Medicine
- Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion2018 | First Faculty of Medicine
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