title: R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.
authors: Dipartimento di Gerontologia, Neuroscienze ed Ortopedia, Istituto di Neurologia, Università Cattolica del Sacro Cuore, Policlinico A.Gemelli, Largo A. Gemelli 8, 00168, Rome, Italy.
authors: Maria Gabriella
authors: MG
authors: Vita
authors: Simona
authors: S
authors: Gaudino
authors: Daniela
authors: D
authors: Di Giuda
authors: Donato
authors: D
authors: Sauchelli
authors: Paolo Emilio
authors: PE
authors: Alboini
authors: Emma
authors: E
authors: Gangemi
authors: Alessandra
authors: A
authors: Bizzarro
authors: Eugenia
authors: E
authors: Scaricamazza
authors: Sabina
authors: S
authors: Capellari
authors: Piero
authors: P
authors: Parchi
authors: Carlo
authors: C
authors: Masullo
mesh_terms: D001120:Arginine / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D059906:Neuroimaging; D010641:Phenotype; D011328:Prions / Q000235:genetics*; D011859:Radiography; D011877:Radionuclide Imaging
chemical_list: D011328:Prions; D006639:Histidine; D001120:Arginine
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