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HMSN III
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Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature
2002 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Divergent phenotypes of Charcot-Marie-Tooth disease: demyelinating with childhood onset and axonal with late onset and slow pupillary reaction, resulting from different myelin protein zero (MPZ, P0) gene mutations
2004 |
Second Faculty of Medicine
publication
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
2010 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine