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Items: 1 to 20 of 109

1.

Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease.

Chen C, Shi Q, Zhou W, Zhang XC, Dong JH, Hu XQ, Song XN, Liu AF, Tian C, Wang JC, Gao C, Zhang J, Han J, Dong XP.

Infect Genet Evol. 2013 Mar;14:120-4. doi: 10.1016/j.meegid.2012.11.019. Epub 2012 Dec 20.

PMID:
23261545
2.

The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010.

Gao C, Shi Q, Tian C, Chen C, Han J, Zhou W, Zhang BY, Jiang HY, Zhang J, Dong XP.

PLoS One. 2011;6(8):e24231. doi: 10.1371/journal.pone.0024231. Epub 2011 Aug 31.

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.

The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

Shi Q, Zhou W, Chen C, Zhang BY, Xiao K, Zhang XC, Shen XJ, Li Q, Deng LQ, Dong JH, Lin WQ, Huang P, Jiang WJ, Lv J, Han J, Dong XP.

PLoS One. 2015 Oct 21;10(10):e0139552. doi: 10.1371/journal.pone.0139552. eCollection 2015.

6.

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
7.

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

Shiga Y, Satoh K, Kitamoto T, Kanno S, Nakashima I, Sato S, Fujihara K, Takata H, Nobukuni K, Kuroda S, Takano H, Umeda Y, Konno H, Nagasato K, Satoh A, Matsuda Y, Hidaka M, Takahashi H, Sano Y, Kim K, Konishi T, Doh-ura K, Sato T, Sasaki K, Nakamura Y, Yamada M, Mizusawa H, Itoyama Y.

J Neurol. 2007 Nov;254(11):1509-17. Epub 2007 Nov 2.

PMID:
17965961
8.

[Psychiatric manifestations of a new variant of Creutzfeldt-Jakob disease. Apropos of a case].

Dervaux A, Vicart S, Lopes F, Le Borgne MH.

Encephale. 2001 Mar-Apr;27(2):194-7. French.

PMID:
11407273
9.

Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.

Shi Q, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.

Prion. 2013 May-Jun;7(3):259-62. doi: 10.4161/pri.24674.

10.

Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type.

Meissner B, Westner IM, Kallenberg K, Krasnianski A, Bartl M, Varges D, Bösenberg C, Kretzschmar HA, Knauth M, Schulz-Schaeffer WJ, Zerr I.

Neurology. 2005 Nov 22;65(10):1544-50. Epub 2005 Oct 12.

PMID:
16221949
11.

Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2.

Samman I, Schulz-Schaeffer WJ, Wöhrle JC, Sommer A, Kretzschmar HA, Hennerici M.

J Neurol Neurosurg Psychiatry. 1999 Nov;67(5):678-81.

12.
13.

Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease.

Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, Pocchiari M, Almonti S, Cuadrado-Corrales N, de Pedro-Cuesta J, Budka H, Gelpi E, Glatzel M, Tolnay M, Hewer E, Zerr I, Heinemann U, Kretszchmar HA, Jansen GH, Olsen E, Mitrova E, Alpérovitch A, Brandel JP, Mackenzie J, Murray K, Will RG.

Brain. 2006 Sep;129(Pt 9):2278-87. Epub 2006 Jul 1.

PMID:
16816392
14.

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
15.

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.

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.

Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene.

Huang N, Marie SK, Kok F, Nitrini R.

Arq Neuropsiquiatr. 2001 Dec;59(4):932-5.

18.

[Creutzfeldt-Jakob disease with a point mutation at codon 232 of prion protein--a case report].

Shimizu T, Tanaka K, Tanahashi N, Fukuuchi Y, Kitamoto T.

Rinsho Shinkeigaku. 1994 Jun;34(6):590-2. Japanese.

PMID:
7955719
19.

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP.

Shi Q, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP.

Prion. 2011 Apr-Jun;5(2):117-20. Epub 2011 Apr 1.

20.

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.

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