Associated Papers
Prospective 25-year surveillance of prion diseases in France, 1992 to 2016: a slow waning of epidemics and an increase in observed sporadic forms.
Denouel A et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin, 2023
Elevated E200K Somatic Mutation of the Prion Protein Gene (PRNP) in the Brain Tissues of Patients with Sporadic Creutzfeldt-Jakob Disease (CJD).
Won SY et al.
International Journal of Molecular Sciences, 2023
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.
Murley AG et al.
Neurology. Genetics, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.
Shan Y et al.
Prion, 2022
Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases.
Gandoglia I et al.
Prion, 2022
Proposal of new diagnostic criteria for fatal familial insomnia.
Chu M et al.
Journal of Neurology, 2022
The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.
Won SY et al.
Medicina (kaunas, Lithuania), 2022
Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS.
Mortberg MA et al.
Jci Insight, 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
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T et al.
Alzheimer's Research & Therapy, 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Genetic prion disease-related mutation E196K displays a novel amyloid fibril structure revealed by cryo-EM.
Wang LQ et al.
Science Advances, 2021
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Rossi M et al.
Movement Disorders Clinical Practice, 2021
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
Elucidating Critical Proteinopathic Mechanisms and Potential Drug Targets in Neurodegeneration.
Dar KB et al.
Cellular and Molecular Neurobiology, 2020
Biophysical characterization of oligomerization and fibrillization of the G131V pathogenic mutant of human prion protein.
Zhang M et al.
Acta Biochimica Et Biophysica Sinica, 2019
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.
Kim YC et al.
Bmc Genomics, 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
Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.
Rossi M et al.
Viruses, 2019
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S et al.
Brain Pathology (zurich, Switzerland), 2019
A valine-to-lysine substitution at position 210 induces structural conversion of prion protein into a β-sheet rich oligomer.
Kakuda K et al.
Biochemical and Biophysical Research Communications, 2018
D159 and S167 are protective residues in the prion protein from dog and horse, two prion-resistant animals.
Sanchez-Garcia J et al.
Neurobiology of Disease, 2018
DES-Mutation: System for Exploring Links of Mutations and Diseases.
Kordopati V et al.
Scientific Reports, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Report and literature review on two cases with different kinds of Creutzfeldt-Jakob disease.
Tang C et al.
Experimental and Therapeutic Medicine, 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
Protein astrogliopathies in human neurodegenerative diseases and aging.
Kovacs GG et al.
Brain Pathology (zurich, Switzerland), 2017
Tau pathology in Creutzfeldt-Jakob disease revisited.
Kovacs GG et al.
Brain Pathology (zurich, Switzerland), 2017
Brain 18F-FDG PET/CT findings in a case of genetic Creutzfeldt-Jakob disease due to V203I heterozygous mutation in the PRNP gene.
Cistaro A et al.
Journal of Neurology, 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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Detection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease.
Bougard D et al.
Science Translational Medicine, 2016
Distinct effects of mutations on biophysical properties of human prion protein monomers and oligomers.
Yu Y et al.
Acta Biochimica Et Biophysica Sinica, 2016
Epidemiological characteristics of human prion diseases.
Chen C et al.
Infectious Diseases of Poverty, 2016
Do prion protein gene polymorphisms induce apoptosis in non-mammals?
Birkan T et al.
Journal of Biosciences, 2016
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV et al.
Science Translational Medicine, 2016
Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.
Lee SM et al.
Plos One, 2016
Human prion protein sequence elements impede cross-species chronic wasting disease transmission.
Kurt TD et al.
The Journal of Clinical Investigation, 2015
Pathological mutations H187R and E196K facilitate subdomain separation and prion protein conversion by destabilization of the native structure.
Hadži S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2015
Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2015