- Pelizaeus Merzbacher's disease (PMD) - Detection of the most frequent mutation of the proteolipid protein gene in Czech patients and families with the classical form of PAID2003 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Pelizaeus-Merzbacher disease2014 | First Faculty of Medicine
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C > A, Ala242Glu) at the 'Jimpy(msd) codon' in the PLP gene2002 | Second Faculty of Medicine
- Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication2015 | Second Faculty of Medicine
- PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing2014 | Second Faculty of Medicine
- Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients2006 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants2019 | Second Faculty of Medicine