- Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature2002 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- FOUR NOVEL POINT MUTATIONS IN THE PMP22 GENE WITH PHENOTYPES OF HNPP AND DEJERINE-SOTTAS NEUROPATHY2011 | First Faculty of Medicine
- Duplikace genu PMP22 u pacientky se syndromem Potocki-Lupski2018 | Second Faculty of Medicine
- Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype1999 | Second Faculty of Medicine
- Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability2010 | Second Faculty of Medicine
- Hereditary neuropathy with liability to pressure palsy2006 | Second Faculty of Medicine
- Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations2020 | Second Faculty of Medicine
- Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing2001 | Second Faculty of Medicine
- Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient2017 | Second Faculty of Medicine
- Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs2000 | Second Faculty of Medicine
