Publications
- First cases in the Czech Republic of the Hallervorden-Spatz Disease resulting from mutation in the Pantothenate Kinase 2 Gene +12005 | Second Faculty of Medicine
- Pelizaeus Merzbacher's disease (PMD) - Detection of the most frequent mutation of the proteolipid protein gene in Czech patients and families with the classical form of PAID2003 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Congenital muscular dystrophy with complete defect of merosine - First two cases confirmed in the Czech Republic - Typical phenotype and evidence based on skin biopsy2002 | Second Faculty of Medicine
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