- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients2006 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication2015 | 2. lékařská fakulta
- Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants2019 | 2. lékařská fakulta
- PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing2014 | 2. lékařská fakulta