Biochemical and Neuropathological Findings in a Creutzfeldt-Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene.

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作者： Gianluigi,Zanusso ^[1] ; Elisa,Colaizzo ^[2] ; Anna,Poleggi ^[2] ; Carlo,Masullo ^[3] ; Raffaello,Romeo ^[4] ; Sergio,Ferrari ^[1] ; Matilde,Bongianni ^[1] ; Michele,Fiorini ^[1] ; Dorina,Tiple ^[2] ; Luana,Vaianella ^[2] ; Marco,Sbriccoli ^[2] ; Flavia,Porreca ^[2] ; Michele,Equestre ^[2] ; Maurizio,Pocchiari ^[2] ; Franco,Cardone ^[2] ; Anna,Ladogana ^[2]

作者单位： Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy. ^[1] Department of Neuroscience, Istituto Superiore di Sanità, 00161 Rome, Italy. ^[2] Department of Neuroscience, Catholic University of the Sacred Heart, 00168 Rome, Italy. ^[3] Unit of Otolaryngology, Clinica Nuova Itor Rome, 00158 Rome, Italy. ^[4]

关键词 Creutzfeldt–Jakob disease RT-QuIC assay Val180Ile mutation neuropathology prion disease prion protein

主题词脑(Brain);克-亚综合征(Creutzfeldt-Jakob Syndrome);内肽酶K(Endopeptidase K);单倍型(Haplotypes);人类(Humans);朊病毒(Prions)

DOI 10.3390/ijms231810210

PMID 36142123

发布时间 2022-09-28

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