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Page 1
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. Among authors: uphill j. 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.
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.
Beck JA, Poulter M, Campbell TA, Uphill JB, Adamson G, Geddes JF, Revesz T, Davis MB, Wood NW, Collinge J, Tabrizi SJ. Beck JA, et al. Among authors: uphill jb. Hum Mol Genet. 2004 Jun 15;13(12):1219-24. doi: 10.1093/hmg/ddh134. Epub 2004 Apr 28. Hum Mol Genet. 2004. PMID: 15115757
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.
Webb TE, Poulter M, Beck J, Uphill J, Adamson G, Campbell T, Linehan J, Powell C, Brandner S, Pal S, Siddique D, Wadsworth JD, Joiner S, Alner K, Petersen C, Hampson S, Rhymes C, Treacy C, Storey E, Geschwind MD, Nemeth AH, Wroe S, Collinge J, Mead S. Webb TE, et al. Among authors: uphill j. Brain. 2008 Oct;131(Pt 10):2632-46. doi: 10.1093/brain/awn202. Epub 2008 Aug 30. Brain. 2008. PMID: 18757886 Free PMC article.
Genetic susceptibility, evolution and the kuru epidemic.
Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Beck J, Campbell T, Al-Dujaily H, Hummerich H, Alpers MP, Collinge J. Mead S, et al. Among authors: uphill j. Philos Trans R Soc Lond B Biol Sci. 2008 Nov 27;363(1510):3741-6. doi: 10.1098/rstb.2008.0087. Philos Trans R Soc Lond B Biol Sci. 2008. PMID: 18849290 Free PMC article.
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, Hummerich H, Verzilli C, Alpers MP, Whittaker JC, Collinge J. Mead S, et al. Among authors: uphill j. Lancet Neurol. 2009 Jan;8(1):57-66. doi: 10.1016/S1474-4422(08)70265-5. Lancet Neurol. 2009. PMID: 19081515 Free PMC article.
Seven-year discordance in age at onset in monozygotic twins with inherited prion disease (P102L).
Webb T, Mead S, Beck J, Uphill J, Pal S, Hampson S, Wadsworth JDF, Mena ID, O'Malley C, Wroe S, Schapira A, Brandner S, Collinge J. Webb T, et al. Among authors: uphill j. Neuropathol Appl Neurobiol. 2009 Aug;35(4):427-432. doi: 10.1111/j.1365-2990.2009.01012.x. Epub 2009 Jan 21. Neuropathol Appl Neurobiol. 2009. PMID: 19207267 No abstract available.
57 results