Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Brian Stephen Appleby"'
Autor:
Ignazio Cali, Laura Cracco, Dario Saracino, Rossana Occhipinti, Cinzia Coppola, Brian Stephen Appleby, Gianfranco Puoti
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
The insertion of additional 168 base pair containing seven octapeptide repeats in the prion protein (PrP) gene region spanning residues 51–91 is associated with inherited prion disease. In 2008, we reported the clinical features of a novel de novo
Externí odkaz:
https://doaj.org/article/be3cf2568b694a1bbe5248cfdbf84111
Autor:
Ignazio, Cali, Gianfranco, Puoti, Jason, Smucny, Paul Michael, Curtiss, Laura, Cracco, Tetsuyuki, Kitamoto, Rossana, Occhipinti, Mark Lloyd, Cohen, Brian Stephen, Appleby, Pierluigi, Gambetti
Publikováno v:
Scientific Reports
We report a detailed study of a cohort of sporadic Creutzfeldt-Jakob disease (sCJD) VV1–2 type-mixed cases (valine homozygosity at codon 129 of the prion protein, PrP, gene harboring disease-related PrP, PrPD, types 1 and 2). Overall, sCJDVV1–2 s