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Page 1
Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease.
Vallabh SM, Zou D, Pitstick R, O'Moore J, Peters J, Silvius D, Kriz J, Jackson WS, Carlson GA, Minikel EV, Cabin DE. Vallabh SM, et al. J Virol. 2023 Feb 28;97(2):e0167222. doi: 10.1128/jvi.01672-22. Epub 2023 Jan 18. J Virol. 2023. PMID: 36651748 Free PMC article.
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: vallabh sm. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 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. 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. Among authors: vallabh sm. Neurology. 2019 Jul 9;93(2):e125-e134. doi: 10.1212/WNL.0000000000007745. Epub 2019 Jun 6. Neurology. 2019. PMID: 31171647 Free PMC article.
Antisense oligonucleotides extend survival of prion-infected mice.
Raymond GJ, Zhao HT, Race B, Raymond LD, Williams K, Swayze EE, Graffam S, Le J, Caron T, Stathopoulos J, O'Keefe R, Lubke LL, Reidenbach AG, Kraus A, Schreiber SL, Mazur C, Cabin DE, Carroll JB, Minikel EV, Kordasiewicz H, Caughey B, Vallabh SM. Raymond GJ, et al. Among authors: vallabh sm. JCI Insight. 2019 Jul 30;5(16):e131175. doi: 10.1172/jci.insight.131175. JCI Insight. 2019. PMID: 31361599 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: vallabh sm. 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.
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. Neurology. 2020 Oct 6;95(14):e2028-e2037. doi: 10.1212/WNL.0000000000009183. Epub 2020 Feb 25. Neurology. 2020. PMID: 32098855 Free PMC article.
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.
Vallabh SM, Minikel EV, Williams VJ, Carlyle BC, McManus AJ, Wennick CD, Bolling A, Trombetta BA, Urick D, Nobuhara CK, Gerber J, Duddy H, Lachmann I, Stehmann C, Collins SJ, Blennow K, Zetterberg H, Arnold SE. Vallabh SM, et al. BMC Med. 2020 Jun 18;18(1):140. doi: 10.1186/s12916-020-01608-8. BMC Med. 2020. PMID: 32552681 Free PMC article.
26 results