Associated Papers
Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.
Wu YZ et al.
Neurobiology of Aging, 2023
Creutzfeldt-Jakob disease presenting as Korsakoff syndrome caused by E196A mutation in PRNP gene: A case report.
Zhang YK et al.
World Journal of Clinical Cases, 2023
Effects of the pathological E200K mutation on human prion protein: A computational screening and molecular dynamics approach.
Gharemirshamloo FR et al.
Journal of Cellular Biochemistry, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Clinical and prognostic features of Heidenhain variant of Creutzfeldt-Jakob disease: A retrospective case series study.
Yang SL et al.
European Journal of Neurology, 2022
Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.
Shi Q et al.
Bmj Open, 2021
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.
Wu X et al.
Prion, 2020
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.
Won SY et al.
International Journal of Molecular Sciences, 2020
Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017.
Sun Y et al.
Clinical Epidemiology, 2020
Structural insight into conformational change in prion protein by breakage of electrostatic network around H187 due to its protonation.
Lee J et al.
Scientific Reports, 2019
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.
Bernardi L et al.
International Journal of Molecular Sciences, 2019
Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report.
Dai Y et al.
Prion, 2019
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2019
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Genetic Creutzfeldt-Jakob disease.
Ladogana A et al.
Handbook of Clinical Neurology, 2018
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2018
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
Takada LT et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.
Shi Q et al.
Prion, 2016
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.
Chiesa R et al.
Prion, 2016
Disease genetics: Prion variant pathogenicity through large-scale population sequencing.
Burgess DJ
Nature Reviews. Genetics, 2016
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV et al.
Science Translational Medicine, 2016
Clinical update of Jakob-Creutzfeldt disease.
Kim MO et al.
Current Opinion in Neurology, 2015
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
Shi Q et al.
Plos One, 2015
Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease.
Zhang H et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2014