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Items: 1 to 20 of 108

1.

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.

Kaski DN, Pennington C, Beck J, Poulter M, Uphill J, Bishop MT, Linehan JM, O'Malley C, Wadsworth JD, Joiner S, Knight RS, Ironside JW, Brandner S, Collinge J, Mead S.

Brain. 2011 Jun;134(Pt 6):1829-38. doi: 10.1093/brain/awr079.

PMID:
21616973
2.

Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.

Mead S, Poulter M, Beck J, Webb TE, Campbell TA, Linehan JM, Desbruslais M, Joiner S, Wadsworth JD, King A, Lantos P, Collinge J.

Brain. 2006 Sep;129(Pt 9):2297-317.

PMID:
16923955
3.

[Genetic background of human prion diseases].

Kovács GG.

Ideggyogy Sz. 2007 Nov 30;60(11-12):438-46. Review. Hungarian.

PMID:
18198790
4.

Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129.

Mead S, Webb TE, Campbell TA, Beck J, Linehan JM, Rutherfoord S, Joiner S, Wadsworth JD, Heckmann J, Wroe S, Doey L, King A, Collinge J.

Neurology. 2007 Aug 21;69(8):730-8.

PMID:
17709704
5.

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.

Jansen C, Voet W, Head MW, Parchi P, Yull H, Verrips A, Wesseling P, Meulstee J, Baas F, van Gool WA, Ironside JW, Rozemuller AJ.

Acta Neuropathol. 2011 Jan;121(1):59-68. doi: 10.1007/s00401-010-0656-3. Epub 2010 Mar 3. Review.

6.

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.

7.

Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129.

Sánchez-Valle R, Yagüe J, Turón A, Aróstegui JI, Nos C, Rey MJ, Ferrer I, Gelpi E.

Brain. 2012 Apr;135(Pt 4):e212. doi: 10.1093/brain/awr358. Epub 2012 Feb 2. No abstract available.

PMID:
22300874
8.

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.

9.

Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene.

Krasemann S, Zerr I, Weber T, Poser S, Kretzschmar H, Hunsmann G, Bodemer W.

Brain Res Mol Brain Res. 1995 Dec 1;34(1):173-6.

PMID:
8750875
10.

Prospective 10-year surveillance of human prion diseases in Japan.

Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, Sato T, Kitamoto T, Mizusawa H, Moriwaka F, Shiga Y, Kuroiwa Y, Nishizawa M, Kuzuhara S, Inuzuka T, Takeda M, Kuroda S, Abe K, Murai H, Murayama S, Tateishi J, Takumi I, Shirabe S, Harada M, Sadakane A, Yamada M.

Brain. 2010 Oct;133(10):3043-57. doi: 10.1093/brain/awq216. Epub 2010 Sep 20.

PMID:
20855418
11.

Rapidly progressive dementia syndrome associated with a novel four extra repeat mutation in the prion protein gene.

Yanagihara C, Yasuda M, Maeda K, Miyoshi K, Nishimura Y.

J Neurol Neurosurg Psychiatry. 2002 Jun;72(6):788-91.

12.

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
13.

Prion disease with a 144 base pair insertion: unusual cerebellar prion protein immunoreactivity.

Gelpi E, Kovacs GG, Ströbel T, Koperek O, Voigtländer T, Liberski PP, Budka H.

Acta Neuropathol. 2005 Nov;110(5):513-9. Epub 2005 Sep 10.

PMID:
16155763
14.

Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.

Tartaglia MC, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.

J Neuropathol Exp Neurol. 2010 Dec;69(12):1220-7. doi: 10.1097/NEN.0b013e3181ffc39c.

15.

Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations.

Hill AF, Joiner S, Beck JA, Campbell TA, Dickinson A, Poulter M, Wadsworth JD, Collinge J.

Brain. 2006 Mar;129(Pt 3):676-85. Epub 2006 Jan 16.

PMID:
16415305
16.

Polymorphisms of the prion protein gene (PRNP) in a Serbian population.

Dimitrijević R, Cadez I, Keckarević-Marković M, Keckarević D, Kecmanović M, Dobricić V, Savić-Pavićević D, Brajusković G, Romac S.

Int J Neurosci. 2010 Jul;120(7):496-501. doi: 10.3109/00207451003765907.

PMID:
20583902
17.

Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene.

Rossi G, Giaccone G, Giampaolo L, Iussich S, Puoti G, Frigo M, Cavaletti G, Frattola L, Bugiani O, Tagliavini F.

Neurology. 2000 Aug 8;55(3):405-10.

PMID:
10932276
18.

Mutations of the prion protein gene phenotypic spectrum.

Kovács GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H.

J Neurol. 2002 Nov;249(11):1567-82.

PMID:
12420099
19.

The influence of PRNP polymorphisms on human prion disease susceptibility: an update.

Kobayashi A, Teruya K, Matsuura Y, Shirai T, Nakamura Y, Yamada M, Mizusawa H, Mohri S, Kitamoto T.

Acta Neuropathol. 2015 Aug;130(2):159-70. doi: 10.1007/s00401-015-1447-7. Epub 2015 May 29. Review.

PMID:
26022925
20.

Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation.

Paucar M, Xiang F, Moore R, Walker R, Winnberg E, Svenningsson P.

Prion. 2013 Nov-Dec;7(6):501-10. Epub 2013 Nov 25.

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