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Items: 1 to 20 of 148

1.

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.

2.

Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation.

Chapman J, Arlazoroff A, Goldfarb LG, Cervenakova L, Neufeld MY, Werber E, Herbert M, Brown P, Gajdusek DC, Korczyn AD.

Neurology. 1996 Mar;46(3):758-61.

PMID:
8618678
3.

Evidence for a pathogenic role of different mutations at codon 188 of PRNP.

Roeber S, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schröter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.

PLoS One. 2008 May 14;3(5):e2147. doi: 10.1371/journal.pone.0002147. Erratum in: PLoS ONE. 2008;3(5). doi: 10.1371/annotation/3189bbdc-e736-4cb5-b1f2-9a5fb49536c6.

4.

[Genetic background of human prion diseases].

Kovács GG.

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

PMID:
18198790
5.

Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity.

Eigenbrod S, Frick P, Giese A, Schelzke G, Zerr I, Kretzschmar HA.

J Neuropathol Exp Neurol. 2011 Mar;70(3):192-200. doi: 10.1097/NEN.0b013e31820cd8a4.

6.

[Human prion diseases: the Hungarian experience].

Kovács GG, Bakos A, Mitrova E, Minárovits J, László L, Majtényi K.

Ideggyogy Sz. 2007 Nov 30;60(11-12):447-52. Hungarian.

PMID:
18200749
7.

Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein Gene.

Marcon G, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.

Brain Pathol. 2014 Mar;24(2):148-51. doi: 10.1111/bpa.12095.

PMID:
24118545
8.

Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene.

Komatsu J, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.

Prion. 2014;8(5):336-8. doi: 10.4161/19336896.2014.971569.

9.

First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutation.

Webb TE, Pal S, Siddique D, Heaney DC, Linehan JM, Wadsworth JD, Joiner S, Beck J, Wroe SJ, Stevenson V, Brandner S, Mead S, Collinge J.

J Neuropathol Exp Neurol. 2008 Sep;67(9):838-41. doi: 10.1097/NEN.0b013e318182f36e.

10.

Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease.

Collins S, Boyd A, Fletcher A, Byron K, Harper C, McLean CA, Masters CL.

Arch Neurol. 2000 Jul;57(7):1058-63.

PMID:
10891990
11.

Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study.

Chen S, Guan M, Shang JK, He S, Zhang ML, Ma MM, Zhang JW.

J Clin Neurosci. 2015 Jan;22(1):204-6. doi: 10.1016/j.jocn.2014.05.040.

PMID:
25220284
12.

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

Peoc'h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.

Hum Mutat. 2000 May;15(5):482.

PMID:
10790216
13.

Novel PRNP mutation in a patient with a slow progressive dementia syndrome.

Heinemann U, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.

Med Sci Monit. 2008 May;14(5):CS41-43.

PMID:
18443555
14.

A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.

Muñoz-Nieto M, Ramonet N, López-Gastón JI, Cuadrado-Corrales N, Calero O, Díaz-Hurtado M, Ipiens JR, Ramón y Cajal S, de Pedro-Cuesta J, Calero M.

J Neurol. 2013 Jan;260(1):77-84. doi: 10.1007/s00415-012-6588-1.

PMID:
22763467
15.

The prion diseases.

Brown K, Mastrianni JA.

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

PMID:
20938044
16.

The prion diseases: Creutzfeldt-Jakob, Gerstmann-Sträussler-Scheinker, and related disorders.

Mastrianni JA.

J Geriatr Psychiatry Neurol. 1998 Summer;11(2):78-97. Review.

PMID:
9877529
17.

Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.

Clerici F, Elia A, Girotti F, Contri P, Mariani C, Tagliavini F, Di Fede G.

J Neurol Sci. 2008 Dec 15;275(1-2):145-7. doi: 10.1016/j.jns.2008.06.036.

PMID:
18706660
18.

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
19.

Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.

Alzualde A, Moreno F, Martínez-Lage P, Ferrer I, Gorostidi A, Otaegui D, Blázquez L, Atares B, Cardoso S, Martínez de Pancorbo M, Juste R, Rodríguez-Martínez AB, Indakoetxea B, López de Munain A.

Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1283-91. doi: 10.1002/ajmg.b.31099.

PMID:
20872767
20.

Report about four novel mutations in the prion protein gene.

Schelzke G, Stoeck K, Eigenbrod S, Grasbon-Frodl E, Raddatz LM, Ponto C, Kretzschmar HA, Zerr I.

Dement Geriatr Cogn Disord. 2013;35(3-4):229-37. doi: 10.1159/000345991.

PMID:
23467330
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