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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: collins sj. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease.
Alperovitch A, Zerr I, Pocchiari M, Mitrova E, de Pedro Cuesta J, Hegyi I, Collins S, Kretzschmar H, van Duijn C, Will RG. Alperovitch A, et al. Lancet. 1999 May 15;353(9165):1673-4. doi: 10.1016/s0140-6736(99)01342-2. Lancet. 1999. PMID: 10335789 No abstract available.
Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease.
Zerr I, Pocchiari M, Collins S, Brandel JP, de Pedro Cuesta J, Knight RS, Bernheimer H, Cardone F, Delasnerie-Lauprêtre N, Cuadrado Corrales N, Ladogana A, Bodemer M, Fletcher A, Awan T, Ruiz Bremón A, Budka H, Laplanche JL, Will RG, Poser S. Zerr I, et al. Neurology. 2000 Sep 26;55(6):811-5. doi: 10.1212/wnl.55.6.811. Neurology. 2000. PMID: 10994001
Transmissible spongiform encephalopathies in Australia.
Boyd A, Fletcher A, Lee JS, Lewis V, Masters CL, Collins SJ. Boyd A, et al. Among authors: collins sj. Commun Dis Intell Q Rep. 2001 Nov;25(4):248-52. Commun Dis Intell Q Rep. 2001. PMID: 11806657 Free article.
248 results