External person at First Faculty of Medicine, Faculty of Physical Education and Sport
Publications
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Science
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | 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
- GDAP1 mutations in Czech families with early-onset CMT2007 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- anamnézy; defekt jednoho genu2006 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
- Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients2006 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness2004 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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