- 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
- Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C2021 | Central Library of Charles University
- POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene2019 | First Faculty of Medicine, Central Library of Charles University
- Recessive ITPA Mutations Cause an Early Infantile Encephalopathy2015 | First Faculty of Medicine
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish2019 | Second Faculty of Medicine
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome2021 | First Faculty of Medicine
- Determination of asialotransferrin in the cerebrospinal fluid with the HPLC method2010 | First Faculty of Medicine
- Unexpected sudden death caused by medullary brain lesions involves all age groups and may include 'sudden infant death syndrome' as a subset2005 | Second Faculty of Medicine, Third Faculty of Medicine
- Divergent phenotypes of Charcot-Marie-Tooth disease: demyelinating with childhood onset and axonal with late onset and slow pupillary reaction, resulting from different myelin protein zero (MPZ, P0) gene mutations2004 | Second Faculty of Medicine
