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- W2242137740 abstract "We describe a patient with hyperekplexia as the initial presenting symptom in sporadic Creutzfeldt-Jakob disease (CJD). We also demonstrate the utility of the sensitive and highly specific new prion protein amplification assay, real-time quaking-induced conversion (RT-QUIC), which amplifies and detects misfolded β-sheet–rich conformers of the prion protein (PrPsc), in expediting a confident clinical diagnosis of CJD in an atypical case." @default.
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- W2242137740 date "2015-06-18" @default.
- W2242137740 modified "2023-10-14" @default.
- W2242137740 title "Hyperekplexia as the presenting symptom of Creutzfeldt-Jakob disease" @default.
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- W2242137740 doi "https://doi.org/10.1212/cpj.0000000000000150" @default.
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