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Page 1
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: poleggi a. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease.
Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, Pocchiari M, Almonti S, Cuadrado-Corrales N, de Pedro-Cuesta J, Budka H, Gelpi E, Glatzel M, Tolnay M, Hewer E, Zerr I, Heinemann U, Kretszchmar HA, Jansen GH, Olsen E, Mitrova E, Alpérovitch A, Brandel JP, Mackenzie J, Murray K, Will RG. Collins SJ, et al. Among authors: poleggi a. Brain. 2006 Sep;129(Pt 9):2278-87. doi: 10.1093/brain/awl159. Epub 2006 Jul 1. Brain. 2006. PMID: 16816392 Free article.
Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease.
Poleggi A, Bizzarro A, Acciarri A, Antuono P, Bagnoli S, Cellini E, Forno GD, Giannattasio C, Lauria A, Matera MG, Nacmias B, Puopolo M, Seripa D, Sorbi S, Wekstein DR, Pocchiari M, Masullo C. Poleggi A, et al. Eur J Neurol. 2008 Feb;15(2):173-8. doi: 10.1111/j.1468-1331.2007.02021.x. Eur J Neurol. 2008. PMID: 18217885
Survival in Alzheimer's disease is shorter in women carrying heterozygosity at codon 129 of the PRNP gene and no APOE epsilon 4 allele.
Giannattasio C, Poleggi A, Puopolo M, Pocchiari M, Antuono P, Dal Forno G, Wekstein DR, Matera MG, Seripa D, Acciarri A, Bizzarro A, Lauria A, Masullo C. Giannattasio C, et al. Among authors: poleggi a. Dement Geriatr Cogn Disord. 2008;25(4):354-8. doi: 10.1159/000119730. Epub 2008 Mar 7. Dement Geriatr Cogn Disord. 2008. PMID: 18332630
Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease.
Kovacs GG, Sanchez-Juan P, Ströbel T, Schuur M, Poleggi A, Nocentini S, Giannattasio C, Belay G, Bishop M, Capellari S, Parchi P, Gelpi E, Gal A, Bakos A, Molnar MJ, Heinemann U, Zerr I, Knight RS, Mitrova E, van Duijn C, Budka H. Kovacs GG, et al. Among authors: poleggi a. Alzheimer Dis Assoc Disord. 2010 Jan-Mar;24(1):104-7. doi: 10.1097/WAD.0b013e3181ad378c. Alzheimer Dis Assoc Disord. 2010. PMID: 19571726
Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients.
Cardone F, Principe S, Schininà ME, Maras B, Capellari S, Parchi P, Notari S, Di Francesco L, Poleggi A, Galeno R, Vinci R, Mellina V, Almonti S, Ladogana A, Pocchiari M. Cardone F, et al. Among authors: poleggi a. Biochem Biophys Res Commun. 2014 Nov 14;454(2):289-94. doi: 10.1016/j.bbrc.2014.10.051. Epub 2014 Oct 19. Biochem Biophys Res Commun. 2014. PMID: 25450391
A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.
Sanchez-Juan P, Bishop MT, Kovacs GG, Calero M, Aulchenko YS, Ladogana A, Boyd A, Lewis V, Ponto C, Calero O, Poleggi A, Carracedo Á, van der Lee SJ, Ströbel T, Rivadeneira F, Hofman A, Haïk S, Combarros O, Berciano J, Uitterlinden AG, Collins SJ, Budka H, Brandel JP, Laplanche JL, Pocchiari M, Zerr I, Knight RS, Will RG, van Duijn CM. Sanchez-Juan P, et al. Among authors: poleggi a. PLoS One. 2015 Apr 28;10(4):e0123654. doi: 10.1371/journal.pone.0123654. eCollection 2014. PLoS One. 2015. PMID: 25918841 Free PMC article.
44 results