Associated Papers
Peripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.
Chen ZY et al.
Cns Neuroscience & Therapeutics, 2026
Multimodal neuroimaging in a case of familial (G114V) juvenile Creutzfeldt-Jakob disease presenting with parkinsonism.
Pascovich C et al.
Neurocase, 2025
Synapse vulnerability and resilience across the clinical spectrum of dementias.
Taddei RN et al.
Nature Reviews. Neurology, 2025
Reconfigured metabolism brain network in asymptomatic Creutzfeldt-Jakob disease.
Kong Y et al.
Neurobiology of Disease, 2025
The Role of PET Imaging in Patients with Prion Disease: A Literature Review.
Mattoli MV et al.
Molecular Imaging and Biology, 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
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
A longitudinal 18F-FDG PET/MRI study in asymptomatic stage of genetic Creutzfeldt-Jakob disease linked to G114V mutation.
Chu M et al.
Journal of Neurology, 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
Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.
Lin X et al.
Frontiers in Neurology, 2022
A Chinese patient with the clinical features of Parkinson's disease contains a single copy of octarepeat deletion in PRNP case report.
Shi Q et al.
Prion, 2021
The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease.
Kim YC et al.
Cells, 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
Systematic review and meta-analysis of human transcriptomics reveals neuroinflammation, deficient energy metabolism, and proteostasis failure across neurodegeneration.
Noori A et al.
Neurobiology of Disease, 2021
White Matter Integrity Involvement in the Preclinical Stage of Familial Creutzfeldt-Jakob Disease: A Diffusion Tensor Imaging Study.
Jing D et al.
Frontiers in Aging Neuroscience, 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
Cryo-EM structure of a human prion fibril with a hydrophobic, protease-resistant core.
Glynn C et al.
Nature Structural & Molecular Biology, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation.
Cousyn L et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior, 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
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.
Di Fede G et al.
Acta Neuropathologica Communications, 2019
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2019
Impaired transmissibility of atypical prions from genetic CJDG114V.
Cali I et al.
Neurology. Genetics, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant.
Margolesky J et al.
Neurology. Genetics, 2018
Lysosomal Quality Control in Prion Diseases.
Majumder P et al.
Molecular Neurobiology, 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
The first report of polymorphisms and genetic characteristics of the prion protein gene (PRNP) in horses.
Kim YC et al.
Prion, 2018
Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report.
Sun C et al.
Medicine, 2017
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
A Small-Molecule Inhibitor of Prion Replication and Mutant Prion Protein Toxicity.
Massignan T et al.
Chemmedchem, 2017
Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations.
Llorens F et al.
Current Neurology and Neuroscience 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
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Distinct effects of mutations on biophysical properties of human prion protein monomers and oligomers.
Yu Y et al.
Acta Biochimica Et Biophysica Sinica, 2016
Proteomic Analyses for the Global S-Nitrosylated Proteins in the Brain Tissues of Different Human Prion Diseases.
Chen LN et al.
Molecular Neurobiology, 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
Familial prion protein mutants inhibit Hrd1-mediated retrotranslocation of misfolded proteins by depleting misfolded protein sensor BiP.
Peters SL et al.
Human Molecular Genetics, 2016
Single octapeptide deletion selectively processes a pathogenic prion protein mutant on the cell surface.
Lee Y et al.
Biochemical and Biophysical Research Communications, 2016