Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: Insights into phenotypic variability and disease pathogenesis

Acta Neuropathologica

Volumn 121, Issue 1, 2011, Pages 21-37

  Capellari, Sabina ^a   Strammiello, Rosaria ^a   Saverioni, Daniela ^a   Kretzschmar, Hans ^b   Parchi, Piero ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

Classification; Genetic polymorphism; Molecular typing; Neurodegeneration; Prion protein; Prion protein gene

Indexed keywords

AMYLOID PROTEIN; ISOPROTEIN; PRION PROTEIN; RECOMBINANT PROTEIN;

AMINO ACID SUBSTITUTION; CELL FREE SYSTEM; CLINICAL FEATURE; CREUTZFELDT JAKOB DISEASE; DISEASE DURATION; DISEASE TRANSMISSION; DNA POLYMORPHISM; FATAL FAMILIAL INSOMNIA; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE LOCATION; GENETIC PREDISPOSITION; GENETIC STRAIN; GENOTYPE PHENOTYPE CORRELATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; IN VITRO STUDY; MOLECULAR TYPING; NEUROPATHOLOGY; NONHUMAN; ONSET AGE; PHENOTYPIC VARIATION; PHYSICAL CHEMISTRY; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEFECT; PROTEIN FOLDING; PROTEIN GLYCOSYLATION; PROTEIN PROCESSING; PROTEIN SECRETION; PROTEIN TERTIARY STRUCTURE; REVIEW; SPORADIC CREUTZFELDT JAKOB DISEASE; STRUCTURE ANALYSIS; TRANSGENIC MOUSE; VARIANT CREUTZFELDT JAKOB DISEASE;

ANIMALS; CREUTZFELDT-JAKOB SYNDROME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INSOMNIA, FATAL FAMILIAL; PHENOTYPE; PRIONS;

EID: 78651246462     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-010-0760-4     Document Type: Review

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