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
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.
Murley AG et al.
Neurology. Genetics, 2023
Prevalence and Treatments of Movement Disorders in Prion Diseases: A Longitudinal Cohort Study.
Sequeira D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.
Won SY et al.
Medicina (kaunas, Lithuania), 2022
Human prion protein: exploring the thermodynamic stability and structural dynamics of its pathogenic mutants.
Halder P et al.
Journal of Biomolecular Structure & Dynamics, 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
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
Structural effects of the highly protective V127 polymorphism on human prion protein.
Hosszu LLP et al.
Communications Biology, 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
Elucidating Critical Proteinopathic Mechanisms and Potential Drug Targets in Neurodegeneration.
Dar KB et al.
Cellular and Molecular Neurobiology, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.
Torrent J et al.
Scientific Reports, 2019
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.
Di Fede G et al.
Acta Neuropathologica Communications, 2019
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.
Schwartz M et al.
Frontiers in Genetics, 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
Differential overexpression of SERPINA3 in human prion diseases.
Vanni S et al.
Scientific Reports, 2017
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
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
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
Do prion protein gene polymorphisms induce apoptosis in non-mammals?
Birkan T et al.
Journal of Biosciences, 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
Ubiquitin-specific protease 14 modulates degradation of cellular prion protein.
Homma T et al.
Scientific Reports, 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
Predictive testing for inherited prion disease: report of 22 years experience.
Owen J et al.
European Journal of Human Genetics : Ejhg, 2014
Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation.
Lee SM et al.
Bmc Medical Genomics, 2014
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
Selective vulnerability to neurodegenerative disease: the curious case of Prion Protein.
Jackson WS
Disease Models & Mechanisms, 2014
Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene.
Komatsu J et al.
Prion, 2014
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013
Discriminant analysis of prion sequences for prediction of susceptibility.
Lee JH et al.
Experimental & Molecular Medicine, 2013
Probing early misfolding events in prion protein mutants by NMR spectroscopy.
Giachin G et al.
Molecules (basel, Switzerland), 2013
Genetics of prion diseases.
Lloyd SE et al.
Current Opinion in Genetics & Development, 2013
Burial of the polymorphic residue 129 in amyloid fibrils of prion stop mutants.
Skora L et al.
The Journal of Biological Chemistry, 2013
Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders.
Peoc'h K et al.
Human Molecular Genetics, 2012
Exploring structural and thermodynamic stabilities of human prion protein pathogenic mutants D202N, E211Q and Q217R.
Guo J et al.
Journal of Structural Biology, 2012