REFERENCES
- Imran M, Mahmood S. An overview of human prion diseases. Virol J 2011; 8:559; PMID:22196171; http://dx.doi.org/10.1186/1743-422X-8-559
- Prusiner SB. The prion diseases. Brain Pathol 1998; 8:499-513; PMID:9669700; http://dx.doi.org/10.1111/j.1750-3639.1998.tb00171.x
- Zeng L, Zou W, Wang G. Cellular prion protein (PrP(C)) and its role in stress responses. Int J Clin Exp Med 2015; 8:8042-50; PMID:26221369
- Jeong BH, Kim YS. Genetic studies in human prion diseases. J Korean Med Sci 2014; 29:623-32; PMID:24851016; http://dx.doi.org/10.3346/jkms.2014.29.5.623
- Shi Q, Zhou W, Chen C, Zhang BY, Xiao K, Zhang XC, Shen XJ, Li Q, Deng LQ, Dong JH, et al. The features of genetic prion diseases based on Chinese surveillance program. PLoS One 2015; 10(10):e0139552; PMID:26488179; http://dx.doi.org/10.1371/journal.pone.0139552
- Gao C, Shi Q, Tian C, Chen C, Han J, Zhou W, Zhang BY, Jiang HY, Zhang J, Dong XP. The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010. PLoS One 2011; 6(8):e24231; PMID:21904617; http://dx.doi.org/10.1371/journal.pone.0024231
- Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U, Breithaupt M, Varges D, Meissner B, Ladogana A, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 2009; 132:2659-68; PMID:19773352; http://dx.doi.org/10.1093/brain/awp191
- Shi Q, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP. Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. Prion 2014; 8:411-4; PMID:25482600; http://dx.doi.org/10.4161/19336896.2014.967040
- Zhang H, Wang M, Wu L, Zhang H, Jin T, Wu J, Sun L. Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease. J Clin Neurosci 2014; 21:175-8; PMID:23787189; http://dx.doi.org/10.1016/j.jocn.2013.03.016
- Kim MO, Geschwind MD. Clinical update of Jakob-Creutzfeldt disease. Curr Opin Neurol 2015; 28:302-10; PMID:25923128; http://dx.doi.org/10.1097/WCO.0000000000000197
- Peoc'h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL. Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat 2000; 15:482; PMID:10790216; http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5%3c482::AID-HUMU16%3e3.0.CO;2-1
- Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I. Clinical findings and diagnosis in genetic prion diseases in Germany. Eur J Epidemiol 2016; 31(2):187-96; PMID:26076917; http://dx.doi.org/10.1007/s10654-015-0049-y
- Eigenbrod S, Frick P, Giese A, Schelzke G, Zerr I, Kretzschmar HA. Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. J Neuropathol Exp Neurol 2011; 70:192-200; PMID:21293298; http://dx.doi.org/10.1097/NEN.0b013e31820cd8a4
- Schelzke G, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I. Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. Neurobiol Aging 2011; 32: 756 e751-9; PMID:NOT_FOUND; http://dx.doi.org/10.1016/j.neurobiolaging.2010.11.023
- Bejot Y, Osseby GV, Caillier M, Moreau T, Laplanche JL, Giroud M. Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities. Clin Neurol Neurosurg 2010; 112:244-7; PMID:20005032; http://dx.doi.org/10.1016/j.clineuro.2009.11.002
- Clerici F, Elia A, Girotti F, Contri P, Mariani C, Tagliavini F, Di Fede G. Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene. J Neurol Sci 2008; 275:145-7; PMID:18706660; http://dx.doi.org/10.1016/j.jns.2008.06.036
- Shi Q, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP. A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP. Prion 2011; 5:117-20; PMID:21597335; http://dx.doi.org/10.4161/pri.5.2.15846