title: Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy.
authors.affiliation: Department of Pathology and Molecular Medicine, Thomayer Teaching Hospital, Prague, Czech Republic.
authors.forename: Radoslav
authors.initials: R
authors.lastname: Matěj
authors.forename: Gabor G
authors.initials: GG
authors.lastname: Kovacs
authors.forename: Silvie
authors.initials: S
authors.lastname: Johanidesová
authors.forename: Jiří
authors.initials: J
authors.lastname: Keller
authors.forename: Milada
authors.initials: M
authors.lastname: Matějčková
authors.forename: Jana
authors.initials: J
authors.lastname: Nováková
authors.forename: Vladimír
authors.initials: V
authors.lastname: Sigut
authors.forename: Otakar
authors.initials: O
authors.lastname: Keller
authors.forename: Robert
authors.initials: R
authors.lastname: Rusina
mesh_terms: D001120:Arginine / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006639:Histidine / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D013494:Supranuclear Palsy, Progressive / Q000503:physiopathology*
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D006639:Histidine; D001120:Arginine