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Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

Mead S, Uphill J, Beck J, Poulter M, Campbell T, Lowe J, Adamson G, Hummerich H, Klopp N, Rückert IM, Wichmann HE, Azazi D, Plagnol V, Pako WH, Whitfield J, Alpers MP, Whittaker J, Balding DJ, Zerr I, Kretzschmar H, Collinge J.

Hum Mol Genet. 2012 Apr 15;21(8):1897-906. doi: 10.1093/hmg/ddr607. Epub 2011 Dec 30.


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.

Lancet Neurol. 2009 Jan;8(1):57-66. doi: 10.1016/S1474-4422(08)70265-5.


Rare structural genetic variation in human prion diseases.

Lukic A, Uphill J, Brown CA, Beck J, Poulter M, Campbell T, Adamson G, Hummerich H, Whitfield J, Ponto C, Zerr I, Lloyd SE, Collinge J, Mead S.

Neurobiol Aging. 2015 May;36(5):2004.e1-8. doi: 10.1016/j.neurobiolaging.2015.01.011. Epub 2015 Jan 22.


Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.

Mead S, Mahal SP, Beck J, Campbell T, Farrall M, Fisher E, Collinge J.

Am J Hum Genet. 2001 Dec;69(6):1225-35. Epub 2001 Nov 5.


The associations of two SNPs in miRNA-146a and one SNP in ZBTB38-RASA2 with the disease susceptibility and the clinical features of the Chinese patients of sCJD and FFI.

Gao C, Shi Q, Wei J, Zhou W, Xiao K, Wang J, Shi Q, Dong XP.

Prion. 2018 Jan 2;12(1):34-41. doi: 10.1080/19336896.2017.1405885. Epub 2018 Jan 2.


PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

Bishop MT, Pennington C, Heath CA, Will RG, Knight RS.

BMC Med Genet. 2009 Dec 26;10:146. doi: 10.1186/1471-2350-10-146.


Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study.

Vollmert C, Windl O, Xiang W, Rosenberger A, Zerr I, Wichmann HE, Bickeböller H, Illig T; KORA group, Kretzschmar HA.

J Med Genet. 2006 Oct;43(10):e53.


A naturally occurring variant of the human prion protein completely prevents prion disease.

Asante EA, Smidak M, Grimshaw A, Houghton R, Tomlinson A, Jeelani A, Jakubcova T, Hamdan S, Richard-Londt A, Linehan JM, Brandner S, Alpers M, Whitfield J, Mead S, Wadsworth JD, Collinge J.

Nature. 2015 Jun 25;522(7557):478-81. doi: 10.1038/nature14510. Epub 2015 Jun 10.


Genetic studies in human prion diseases.

Jeong BH, Kim YS.

J Korean Med Sci. 2014 May;29(5):623-32. doi: 10.3346/jkms.2014.29.5.623. Epub 2014 Apr 25. Review.


Genetics of prion diseases.

Lloyd SE, Mead S, Collinge J.

Curr Opin Genet Dev. 2013 Jun;23(3):345-51. doi: 10.1016/j.gde.2013.02.012. Epub 2013 Mar 19. Review.


Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease.

Bratosiewicz-Wasik J, Liberski PP, Golanska E, Jansen GH, Wasik TJ.

Neurosci Lett. 2007 Jan 16;411(3):163-7. Epub 2006 Nov 28.


Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

Balendra R, Uphill J, Collinson C, Druyeh R, Adamson G, Hummerich H, Zerr I, Gambetti P, Collinge J, Mead S.

BMC Med Genet. 2016 Apr 7;17:28. doi: 10.1186/s12881-016-0278-2.


No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.

Sánchez-Juan P, Bishop MT, Green A, Giannattasio C, Arias-Vasquez A, Poleggi A, Knight RS, van Duijn CM.

BMC Med Genet. 2007 Dec 11;8:77.


An overview of human prion diseases.

Imran M, Mahmood S.

Virol J. 2011 Dec 24;8:559. doi: 10.1186/1743-422X-8-559. Review.


A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease.

Sanchez-Juan P, Bishop MT, Croes EA, Knight RS, Will RG, van Duijn CM, Manson JC.

BMC Med Genet. 2011 May 22;12:73. doi: 10.1186/1471-2350-12-73.


Association of prion protein genotype and scrapie prion protein type with cellular prion protein charge isoform profiles in cerebrospinal fluid of humans with sporadic or familial prion diseases.

Schmitz M, Lüllmann K, Zafar S, Ebert E, Wohlhage M, Oikonomou P, Schlomm M, Mitrova E, Beekes M, Zerr I.

Neurobiol Aging. 2014 May;35(5):1177-88. doi: 10.1016/j.neurobiolaging.2013.11.010. Epub 2013 Nov 16.


Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases.

Calero O, Bullido MJ, Clarimón J, Frank-García A, Martínez-Martín P, Lleó A, Rey MJ, Rábano A, Blesa R, Gómez-Isla T, Valdivieso F, de Pedro-Cuesta J, Ferrer I, Calero M.

PLoS One. 2011;6(7):e22090. doi: 10.1371/journal.pone.0022090. Epub 2011 Jul 20.


Creutzfeldt-Jakob disease.

Sikorska B, Knight R, Ironside JW, Liberski PP.

Adv Exp Med Biol. 2012;724:76-90. doi: 10.1007/978-1-4614-0653-2_6. Review.


Genotype patterns and characteristics of PRNP in the Korean population.

Moe Lee S, Ran Ju Y, Choi BY, Wook Hyeon J, Sun Park J, Kyeong Kim C, Yeon Kim S.

Prion. 2012 Sep-Oct;6(4):375-82. doi: 10.4161/pri.20195. Epub 2012 May 7.


The prion diseases.

Brown K, Mastrianni JA.

J Geriatr Psychiatry Neurol. 2010 Dec;23(4):277-98. doi: 10.1177/0891988710383576. Epub 2010 Oct 11. Review.


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