• Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome 

      Autor: Tesar A.; Matej R.; Kukal J.; Johanidesova S.; Rektorova I.; Vyhnalek M.; Keller J.; Eliasova I.; Parobkova E.; Smetakova M.; Musova Z.; Rusina R.
      (John Wiley & Sons, 2019)
      Gerstmann-Straussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech ...