Publications
- Fenotyp pacientů s mutacemi genu GTP cyklohydrolásy 1 spojenými s L-dopa responsivní dystonií DYT5 (Segawa) (1)Publication without faculty affiliation
- Longitudinální sledování pacientů s torsní dystonií Segawova typuPublication without faculty affiliation
- Fenotyp pacientů s mutacemi genu GTP cyklohydrolásy 1 spojenými s L-Dopa responsivní dystonií DYT5 (Segawa) (2)Publication without faculty affiliation
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | Second Faculty of Medicine, Faculty of Science, First Faculty of Medicine, Faculty of Physical Education and Sport
- Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report2009 | Second Faculty of Medicine
- Post-poliomyelitic syndrome2006 | First Faculty of Medicine
- Spinal muscular atrophy2006 | First Faculty of Medicine
- Alternating hemiplegia of childhood (AHC)2005 | First Faculty of Medicine
- Postpoliomyelitic syndrome2005 | Publication without faculty affiliation
- Molecular-pathologic and genetic diagnostics of limb girdle muscular dystrophy LGMD2A: presentation of first cases diagnosed in the Czech republik2004 | First Faculty of Medicine
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