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Items: 1 to 20 of 126

1.

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. Epub 2013 Mar 5.

PMID:
23467330
2.

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
3.

Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease.

Zhang H, Wang M, Wu L, Zhang H, Jin T, Wu J, Sun L.

J Clin Neurosci. 2014 Jan;21(1):175-8. doi: 10.1016/j.jocn.2013.03.016. Epub 2013 Jun 17.

PMID:
23787189
4.

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.

5.

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. Epub 2012 Jul 5.

PMID:
22763467
6.

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.

PMID:
21293298
7.

Novel mutation of the PRNP gene of a clinical CJD case.

Kotta K, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T.

BMC Infect Dis. 2006 Nov 27;6:169.

8.

The diagnosis of human prion diseases.

Kordek R.

Folia Neuropathol. 2000;38(4):151-60. Review.

PMID:
11693717
9.

[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
10.

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.

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. Epub 2014 Sep 11.

PMID:
25220284
12.

Association of cerebrospinal fluid prion protein levels and the distinction between Alzheimer disease and Creutzfeldt-Jakob disease.

Dorey A, Tholance Y, Vighetto A, Perret-Liaudet A, Lachman I, Krolak-Salmon P, Wagner U, Struyfs H, De Deyn PP, El-Moualij B, Zorzi W, Meyronet D, Streichenberger N, Engelborghs S, Kovacs GG, Quadrio I.

JAMA Neurol. 2015 Mar;72(3):267-75. doi: 10.1001/jamaneurol.2014.4068.

PMID:
25559883
13.

Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies.

Laplanche JL, Delasnerie-Lauprêtre N, Brandel JP, Chatelain J, Beaudry P, Alpérovitch A, Launay JM.

Neurology. 1994 Dec;44(12):2347-51.

PMID:
7991124
14.

No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease.

Collins SJ, Schuur M, Boyd A, Lewis V, Klug GM, McGlade A, van Oosterhout A, Breedveld G, Oostra BA, Masters C, Van Duijn CM.

Neurosci Lett. 2010 Mar 12;472(1):16-8. doi: 10.1016/j.neulet.2010.01.043. Epub 2010 Jan 25.

PMID:
20105449
15.

Iatrogenic and sporadic Creutzfeldt-Jakob disease in 2 sisters without mutation in the prion protein gene.

Frontzek K, Moos R, Schaper E, Jann L, Herfs G, Zimmermann DR, Aguzzi A, Budka H.

Prion. 2015;9(6):444-8. doi: 10.1080/19336896.2015.1121356.

16.

Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene.

Qina T, Sanjo N, Hizume M, Higuma M, Tomita M, Atarashi R, Satoh K, Nozaki I, Hamaguchi T, Nakamura Y, Kobayashi A, Kitamoto T, Murayama S, Murai H, Yamada M, Mizusawa H.

BMJ Open. 2014 May 16;4(5):e004968. doi: 10.1136/bmjopen-2014-004968.

17.

[Genetic background of human prion diseases].

Kovács GG.

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

PMID:
18198790
18.

[A case of Creutzfeldt-Jakob disease with a double mutation (V180I/M232R) in the PRNP gene].

Koh K, Takaki R, Miwa M, Nagasaka T, Shindo K, Takiyama Y.

Rinsho Shinkeigaku. 2015;55(6):424-7. doi: 10.5692/clinicalneurol.cn-000646. Japanese.

PMID:
26103817
19.

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.

PMID:
24360565
20.

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

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