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Charcot-Marie-tooth disease
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Kateřina Paděrová
External person at Second Faculty of Medicine
12 publications
Publications
publication
Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic
2000 |
Second Faculty of Medicine
publication
Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease
2014 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Autosomal dominant spinocerebellar ataxias
2007 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Autosomal recessive and X-linked ataxia
2007 |
Second Faculty of Medicine
publication
anamnézy; defekt jednoho genu
2006 |
Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
publication
New Views of Cerebellum
2006 |
Second Faculty of Medicine
publication
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly
2004 |
Second Faculty of Medicine
publication
Gabapentin in the Treatment of Neuropathie Pain in Children with Solid Tumors and Hematological Malignancies
2002 |
Second Faculty of Medicine, Central Library of Charles University
publication
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 gene
2002 |
Second Faculty of Medicine
publication
Treatment by intravenous immunoglobulins in autoimmune diseases of children. Practical experience with intravenous immunoglobulin treatment in children during the last three years in Prague Paediatric Clinics
1998 |
Second Faculty of Medicine
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