Browsing by Author "Marogianni, Chrysoula"

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  

      Replication study of GWAS risk loci in Greek multiple sclerosis patients 

      Hadjigeorgiou, Georgios M.; Kountra, Persia-Maria; Koutsis, Georgios; Tsimourtou, Vana; Siokas, Vasileios; Dardioti, Maria; Rikos, Dimitrios; Marogianni, Chrysoula; Aloizou, Athina-Maria; Karadima, Georgia; Ralli, Styliani; Grigoriadis, Nikolaos; Bogdanos, Dimitrios; Panas, Marios; Dardiotis, Efthimios (2019)
      To validate in an ethnically homogeneous Greek multiple sclerosis (MS) cohort, genetic risk factors for the disease, identified through a number of previous multi-ethnic genome-wide association studies (GWAS).