Publications
- A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C > A, Ala242Glu) at the 'Jimpy(msd) codon' in the PLP gene2002 | Second Faculty of Medicine
- Multiple Sclerosis with Early Onset +1Publication without faculty affiliation
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Autosomal dominant spinocerebellar ataxias2007 | Second Faculty of Medicine, First Faculty of Medicine
- Autosomal recessive and X-linked ataxia2007 | Second Faculty of Medicine
- anamnézy; defekt jednoho genu2006 | Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
- New Views of Cerebellum2006 | Second Faculty of Medicine
- Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly2004 | Second Faculty of Medicine
- Gabapentin in the Treatment of Neuropathie Pain in Children with Solid Tumors and Hematological Malignancies2002 | Second Faculty of Medicine, Central Library of Charles University
- Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic2000 | Second Faculty of Medicine
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