ℹ️
🇬🇧
Search
Search for publications relevant for "Dejerine-Sottas neuropathy"
Dejerine-Sottas neuropathy
Publication
Class
Person
Publication
Programmes
Export current view
publication
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
FOUR NOVEL POINT MUTATIONS IN THE PMP22 GENE WITH PHENOTYPES OF HNPP AND DEJERINE-SOTTAS NEUROPATHY
2011 |
First Faculty of Medicine
publication
A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
2008 |
Second Faculty of Medicine
publication
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis
2005 |
Second Faculty of Medicine
publication
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