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Autoantibodies against the prion protein in individuals with PRNP mutations.
Frontzek K, Carta M, Losa M, Epskamp M, Meisl G, Anane A, Brandel JP, Camenisch U, Castilla J, Haïk S, Knowles T, Lindner E, Lutterotti A, Minikel EV, Roiter I, Safar JG, Sanchez-Valle R, Žáková D, Hornemann S, Aguzzi A; THAUTAN-MC Study Group. Frontzek K, et al. Among authors: safar jg. Neurology. 2020 Oct 6;95(14):e2028-e2037. doi: 10.1212/WNL.0000000000009183. Epub 2020 Feb 25. Neurology. 2020. PMID: 32098855 Free PMC article.
Sporadic human prion diseases: molecular insights and diagnosis.
Puoti G, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P. Puoti G, et al. Among authors: safar jg. Lancet Neurol. 2012 Jul;11(7):618-28. doi: 10.1016/S1474-4422(12)70063-7. Lancet Neurol. 2012. PMID: 22710755 Review.
Diagnostic and prognostic value of human prion detection in cerebrospinal fluid.
Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, Chen W, Blevins J, Fausett C, Wang H, Gambetti P, Zhang S, Hughson A, Tatsuoka C, Schonberger LB, Cohen ML, Caughey B, Safar JG. Foutz A, et al. Among authors: safar jg. Ann Neurol. 2017 Jan;81(1):79-92. doi: 10.1002/ana.24833. Ann Neurol. 2017. PMID: 27893164 Free PMC article.
Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study.
Cali I, Cohen ML, Haik S, Parchi P, Giaccone G, Collins SJ, Kofskey D, Wang H, McLean CA, Brandel JP, Privat N, Sazdovitch V, Duyckaerts C, Kitamoto T, Belay ED, Maddox RA, Tagliavini F, Pocchiari M, Leschek E, Appleby BS, Safar JG, Schonberger LB, Gambetti P. Cali I, et al. Among authors: safar jg. Acta Neuropathol Commun. 2018 Jan 8;6(1):5. doi: 10.1186/s40478-017-0503-z. Acta Neuropathol Commun. 2018. PMID: 29310723 Free PMC article.
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Vallabh SM, Nobuhara CK, Llorens F, Zerr I, Parchi P, Capellari S, Kuhn E, Klickstein J, Safar JG, Nery FC, Swoboda KJ, Geschwind MD, Zetterberg H, Arnold SE, Minikel EV, Schreiber SL. Vallabh SM, et al. Among authors: safar jg. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):7793-7798. doi: 10.1073/pnas.1901947116. Epub 2019 Apr 1. Proc Natl Acad Sci U S A. 2019. PMID: 30936307 Free PMC article.
Age at onset in genetic prion disease and the design of preventive clinical trials.
Minikel EV, Vallabh SM, Orseth MC, Brandel JP, Haïk S, Laplanche JL, Zerr I, Parchi P, Capellari S, Safar J, Kenny J, Fong JC, Takada LT, Ponto C, Hermann P, Knipper T, Stehmann C, Kitamoto T, Ae R, Hamaguchi T, Sanjo N, Tsukamoto T, Mizusawa H, Collins SJ, Chiesa R, Roiter I, de Pedro-Cuesta J, Calero M, Geschwind MD, Yamada M, Nakamura Y, Mead S. Minikel EV, et al. Neurology. 2019 Jul 9;93(2):e125-e134. doi: 10.1212/WNL.0000000000007745. Epub 2019 Jun 6. Neurology. 2019. PMID: 31171647 Free PMC article.
Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry.
Minikel EV, Kuhn E, Cocco AR, Vallabh SM, Hartigan CR, Reidenbach AG, Safar JG, Raymond GJ, McCarthy MD, O'Keefe R, Llorens F, Zerr I, Capellari S, Parchi P, Schreiber SL, Carr SA. Minikel EV, et al. Among authors: safar jg. Mol Cell Proteomics. 2019 Dec;18(12):2388-2400. doi: 10.1074/mcp.RA119.001702. Epub 2019 Sep 26. Mol Cell Proteomics. 2019. PMID: 31558565 Free PMC article.
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Jones E, Hummerich H, Viré E, Uphill J, Dimitriadis A, Speedy H, Campbell T, Norsworthy P, Quinn L, Whitfield J, Linehan J, Jaunmuktane Z, Brandner S, Jat P, Nihat A, How Mok T, Ahmed P, Collins S, Stehmann C, Sarros S, Kovacs GG, Geschwind MD, Golubjatnikov A, Frontzek K, Budka H, Aguzzi A, Karamujić-Čomić H, van der Lee SJ, Ibrahim-Verbaas CA, van Duijn CM, Sikorska B, Golanska E, Liberski PP, Calero M, Calero O, Sanchez-Juan P, Salas A, Martinón-Torres F, Bouaziz-Amar E, Haïk S, Laplanche JL, Brandel JP, Amouyel P, Lambert JC, Parchi P, Bartoletti-Stella A, Capellari S, Poleggi A, Ladogana A, Pocchiari M, Aneli S, Matullo G, Knight R, Zafar S, Zerr I, Booth S, Coulthart MB, Jansen GH, Glisic K, Blevins J, Gambetti P, Safar J, Appleby B, Collinge J, Mead S. Jones E, et al. Lancet Neurol. 2020 Oct;19(10):840-848. doi: 10.1016/S1474-4422(20)30273-8. Epub 2020 Sep 16. Lancet Neurol. 2020. PMID: 32949544 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33451456
118 results