Associated Papers
Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP).
Koumasopoulos E et al.
Neurocase, 2025
A review on current theories and potential therapies for prion diseases.
Udayakumar S et al.
Molecular Biology Reports, 2025
Progressive supranuclear palsy phenotype as an atypical clinical presentation of Creutzfeldt-Jakob disease: A case report and review of the literature.
Costanzo M et al.
Clinical Parkinsonism & Related Disorders, 2024
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
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 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
Human prion protein: exploring the thermodynamic stability and structural dynamics of its pathogenic mutants.
Halder P et al.
Journal of Biomolecular Structure & Dynamics, 2022
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic.
Jankovska N et al.
Diagnostics (basel, Switzerland), 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Genetic Risk Factors of Creutzfeldt-Jakob Disease in the Population of Newborns in Slovakia.
Kosorinova D et al.
Pathogens (basel, Switzerland), 2021
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.
Melis M et al.
Neurogenetics, 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
Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.
Aguilar-Calvo P et al.
Acta Neuropathologica, 2020
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
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A et al.
Molecular Neurobiology, 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
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.
Di Fede G et al.
Acta Neuropathologica Communications, 2019
Movement Disorders in Prionopathies: A Systematic Review.
Rodriguez-Porcel F et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 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
Rare case of atypical parkinsonism: why family history is important.
Malek N et al.
Scottish Medical Journal, 2017
High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.
Franceschini A et al.
Scientific Reports, 2017
Interplay of buried histidine protonation and protein stability in prion misfolding.
Malevanets A et al.
Scientific Reports, 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
Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Aβ42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants.
Abu Rumeileh S et al.
Journal of Alzheimer's Disease : Jad, 2017
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Misfolding leads the way to unraveling signaling pathways in the pathophysiology of prion diseases.
Puig B et al.
Prion, 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
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV et al.
Science Translational Medicine, 2016
Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS.
Asante EA et al.
Plos Pathogens, 2015
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
Shi Q et al.
Plos One, 2015
Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients.
Cardone F et al.
Biochemical and Biophysical Research Communications, 2014
Commentary for "Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy".
Kumar KR et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
Structural and dynamic properties of the human prion protein.
Chen W et al.
Biophysical Journal, 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
Systematic investigation of predicted effect of nonsynonymous SNPs in human prion protein gene: a molecular modeling and molecular dynamics study.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2014
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013