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Items: 1 to 20 of 407

1.

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.

2.

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.

3.

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.

PMID:
25726360
4.

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.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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.

PMID:
17134829
10.

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.

11.

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.

12.

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.

13.

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.

14.

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.

Croes EA, Alizadeh BZ, Bertoli-Avella AM, Rademaker T, Vergeer-Drop J, Dermaut B, Houwing-Duistermaat JJ, Wientjens DP, Hofman A, Van Broeckhoven C, van Duijn CM.

Eur J Hum Genet. 2004 May;12(5):389-94.

15.

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.

16.

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.

17.

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.

18.

PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob Disease.

McCormack JE, Baybutt HN, Everington D, Will RG, Ironside JW, Manson JC.

Gene. 2002 Apr 17;288(1-2):139-46.

PMID:
12034503
19.

Atypical prion diseases in humans and animals.

Tranulis MA, Benestad SL, Baron T, Kretzschmar H.

Top Curr Chem. 2011;305:23-50. doi: 10.1007/128_2011_161. Review.

PMID:
21598097
20.

Association of the PRNP regulatory region polymorphisms with the occurrence of sporadic Creutzfeldt-Jakob disease.

Bratosiewicz-Wąsik J, Smoleń-Dzirba J, Watała C, Rozemuller AJ, Jansen C, Spliet W, Jansen GH, Wąsik TJ, Liberski PP.

Folia Neuropathol. 2012;50(1):68-73. Review.

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