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Results: 1 to 20 of 518

1.

Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development.

Mitrová E, Belay G.

Acta Virol. 2002;46(1):31-9.

PMID:
12197632
[PubMed - indexed for MEDLINE]
2.

A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.

Hainfellner JA, Parchi P, Kitamoto T, Jarius C, Gambetti P, Budka H.

Ann Neurol. 1999 Jun;45(6):812-6.

PMID:
10360778
[PubMed - indexed for MEDLINE]
3.

Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease.

Jarius C, Kovacs GG, Belay G, Hainfellner JA, Mitrova E, Budka H.

Acta Neuropathol. 2003 May;105(5):449-54. Epub 2003 Jan 28.

PMID:
12677444
[PubMed - indexed for MEDLINE]
4.

Creutzfeldt-Jakob disease risk in Slovak recipients of human pituitary growth hormone.

Mitrova E, Belay G.

Bratisl Lek Listy. 1999 Apr;100(4):187-91.

PMID:
10914140
[PubMed - indexed for MEDLINE]
5.

Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.

Gabizon R, Rosenman H, Meiner Z, Kahana I, Kahana E, Shugart Y, Ott J, Prusiner SB.

Philos Trans R Soc Lond B Biol Sci. 1994 Mar 29;343(1306):385-90.

PMID:
7913755
[PubMed - indexed for MEDLINE]
6.

Experience with preventive genetic testing of corneal donors in slovakia.

Mitrová E, Cernák A, Slivarichová D, Koščová S, Bernovská V, Cernák M.

Cornea. 2011 Sep;30(9):987-90. doi: 10.1097/ICO.0b013e3182035ac1.

PMID:
21508834
[PubMed - indexed for MEDLINE]
7.

[Creutzfeldt-Jakob encephalopathy with mutation E200K. Report of a "sporadic" case].

Cosacov RM, Taratuto AL, Ghiraridi G, Barrionuevo P, Diaz A, Begué C, Martinetto H.

Rev Fac Cien Med Univ Nac Cordoba. 2004;61(1):48-53. Spanish.

PMID:
15366237
[PubMed - indexed for MEDLINE]
8.

Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.

Pastore M, Chin SS, Bell KL, Dong Z, Yang Q, Yang L, Yuan J, Chen SG, Gambetti P, Zou WQ.

Am J Pathol. 2005 Dec;167(6):1729-38.

PMID:
16314483
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.

Windl O, Dempster M, Estibeiro JP, Lathe R, de Silva R, Esmonde T, Will R, Springbett A, Campbell TA, Sidle KC, Palmer MS, Collinge J.

Hum Genet. 1996 Sep;98(3):259-64.

PMID:
8707291
[PubMed - indexed for MEDLINE]
10.

Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt-Jakob disease.

Kovacs GG, Head MW, Bunn T, Laszlo L, Will RG, Ironside JW.

Neuropathol Appl Neurobiol. 2000 Oct;26(5):463-72.

PMID:
11054187
[PubMed - indexed for MEDLINE]
11.

Prion protein with an E200K mutation displays properties similar to those of the cellular isoform PrP(C).

Rosenmann H, Talmor G, Halimi M, Yanai A, Gabizon R, Meiner Z.

J Neurochem. 2001 Mar;76(6):1654-62.

PMID:
11259483
[PubMed - indexed for MEDLINE]
12.

Human prion protein (PrP) 219K is converted to PrPSc but shows heterozygous inhibition in variant Creutzfeldt-Jakob disease infection.

Hizume M, Kobayashi A, Teruya K, Ohashi H, Ironside JW, Mohri S, Kitamoto T.

J Biol Chem. 2009 Feb 6;284(6):3603-9. doi: 10.1074/jbc.M809254200. Epub 2008 Dec 10.

PMID:
19074151
[PubMed - indexed for MEDLINE]
Free Article
13.

Polymorphism at codon 129 of the prion protein gene determines cerebellar pathology in Creutzfeldt-Jakob disease.

Schulz-Schaeffer WJ, Giese A, Windl O, Kretzschmar HA.

Clin Neuropathol. 1996 Nov-Dec;15(6):353-7.

PMID:
8937783
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
20035629
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.

Salvatore M, Genuardi M, Petraroli R, Masullo C, D'Alessandro M, Pocchiari M.

Hum Genet. 1994 Oct;94(4):375-9. Erratum in: Hum Genet 1995 May;95(5):605.

PMID:
7927332
[PubMed - indexed for MEDLINE]
16.

Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt-Jakob disease.

Deslys JP, Marcé D, Dormont D.

J Gen Virol. 1994 Jan;75 ( Pt 1):23-7.

PMID:
8113733
[PubMed - indexed for MEDLINE]
Free Article
17.

Differential allelic expression of PrP mRNA in carriers of the E200K mutation.

Rosenmann H, Halimi M, Kahana I, Biran I, Gabizon R.

Neurology. 1997 Sep;49(3):851-6.

PMID:
9305353
[PubMed - indexed for MEDLINE]
18.

Neuronal and astrocytic responses involving the serotonergic system in human spongiform encephalopathies.

Fraser E, McDonagh AM, Head M, Bishop M, Ironside JW, Mann DM.

Neuropathol Appl Neurobiol. 2003 Oct;29(5):482-95.

PMID:
14507340
[PubMed - indexed for MEDLINE]
19.

Neuropathologic variants of sporadic Creutzfeldt-Jakob disease and codon 129 of PrP gene.

Hauw JJ, Sazdovitch V, Laplanche JL, Peoc'h K, Kopp N, Kemeny J, Privat N, Delasnerie-Lauprêtre N, Brandel JP, Deslys JP, Dormont D, Alpérovitch A.

Neurology. 2000 Apr 25;54(8):1641-6.

PMID:
10762506
[PubMed - indexed for MEDLINE]
20.

Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.

Bratosiewicz J, Liberski PP, Kulczycki J, Kordek R.

Acta Neurobiol Exp (Wars). 2001;61(3):151-6.

PMID:
11584448
[PubMed - indexed for MEDLINE]
Free Article

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