- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | Faculty of Science, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation IIe127Ser in the GJB1 (connexin 32) gene2005 | Second Faculty of Medicine
- Magnetic resonance brain findings in Charcot-Marie-Tooth disease, type X12009 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine