- Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)2016 | 1. lékařská fakulta
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | 1. lékařská fakulta
- Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency2003 | 1. lékařská fakulta
- Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency2003 | Fakulta tělesné výchovy a sportu
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta