Browsing by Author "Ntellas, Panagiotis"

Now showing items 1-2 of 2

    • Article  

      A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases 

      Xiromerisiou, Georgia; Dadouli, Katerina; Marogianni, Chrysoula; Provatas, Antonios; Ntellas, Panagiotis; Rikos, Dimitrios; Stathis, Pantelis; Georgouli, Despina; Loules, Gedeon; Zamanakou, Maria; Hadjigeorgiou, Georgios M. (2020)
      ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ...
    • Article  

      TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis 

      Ntellas, Panagiotis; Dardiotis, Efthimios; Sevdali, Eirini; Siokas, Vasileios; Aloizou, Athina-Maria; Tsinti, Gerasimina; Germenis, Anastasios E.; Hadjigeorgiou, Georgios M.; Eibel, Hermann; Speletas, Matthaios (2020)
      Recent studies implicate B cells in multiple sclerosis (MS) pathogenesis, and consequently, several molecules participating in B cell survival and proliferation, including B-cell activating factor (BAFF), have recently ...