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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: brandel jp. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Genetic prion disease: the EUROCJD experience.
Kovács GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, van Duijn C, Collins SJ, Boyd A, Giulivi A, Coulthart M, Delasnerie-Laupretre N, Brandel JP, Zerr I, Kretzschmar HA, de Pedro-Cuesta J, Calero-Lara M, Glatzel M, Aguzzi A, Bishop M, Knight R, Belay G, Will R, Mitrova E; EUROCJD. Kovács GG, et al. Among authors: brandel jp. Hum Genet. 2005 Nov;118(2):166-74. doi: 10.1007/s00439-005-0020-1. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16187142
Human transmissible spongiform encephalopathies in eleven countries: diagnostic pattern across time, 1993-2002.
de Pedro-Cuesta J, Glatzel M, Almazán J, Stoeck K, Mellina V, Puopolo M, Pocchiari M, Zerr I, Kretszchmar HA, Brandel JP, Delasnerie-Lauprêtre N, Alpérovitch A, Van Duijn C, Sanchez-Juan P, Collins S, Lewis V, Jansen GH, Coulthart MB, Gelpi E, Budka H, Mitrova E. de Pedro-Cuesta J, et al. Among authors: brandel jp. BMC Public Health. 2006 Nov 10;6:278. doi: 10.1186/1471-2458-6-278. BMC Public Health. 2006. PMID: 17096829 Free PMC article.
150 results