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Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG. Minikel EV, et al. Among authors: capellari s. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Typing prion isoforms.
Parchi P, Capellari S, Chen SG, Petersen RB, Gambetti P, Kopp N, Brown P, Kitamoto T, Tateishi J, Giese A, Kretzschmar H. Parchi P, et al. Among authors: capellari s. Nature. 1997 Mar 20;386(6622):232-4. doi: 10.1038/386232a0. Nature. 1997. PMID: 9069279 No abstract available.
Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease.
Parchi P, Chen SG, Brown P, Zou W, Capellari S, Budka H, Hainfellner J, Reyes PF, Golden GT, Hauw JJ, Gajdusek DC, Gambetti P. Parchi P, et al. Among authors: capellari s. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8322-7. doi: 10.1073/pnas.95.14.8322. Proc Natl Acad Sci U S A. 1998. PMID: 9653185 Free PMC article.
Molecular pathology of fatal familial insomnia.
Parchi P, Petersen RB, Chen SG, Autilio-Gambetti L, Capellari S, Monari L, Cortelli P, Montagna P, Lugaresi E, Gambetti P. Parchi P, et al. Among authors: capellari s. Brain Pathol. 1998 Jul;8(3):539-48. doi: 10.1111/j.1750-3639.1998.tb00176.x. Brain Pathol. 1998. PMID: 9669705 Free PMC article. Review.
216 results