Prohlížení České vysoké učení technické v Praze dle autora "Johanidesova S."
-
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 ...