Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Enhanced Sensitivity of a Modified Quaking-Induced Conversion Diagnostic Test for the Broad Detection of Sporadic and Inherited Prion Diseases: A Retrospective Study.
Myskiw J et al.
Annals of Neurology, 2026
Antibodies in Creutzfeldt-Jakob disease: A systematic review of patient characteristics, diagnostics, and clinical implications.
Bilavu R et al.
Journal of Neuroimmunology, 2026
Pathogenic Proteins Through the Lens of NMR Spectroscopy: Structural and Functional Insights into Disease.
Aboalroub AA
Cell Biochemistry and Biophysics, 2025
Mortality of individuals with antemortem genetic testing for PRNP variants in the United States, 1998-2024.
Lian Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical phenotype associated with A118V mutation of PRPN gene.
Giannelli T et al.
Journal of Neurology, 2025
The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease.
Holm-Mercer L et al.
Journal of Neurogenetics, 2025
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Biorxiv : the Preprint Server for Biology, 2024
MoDAFold: a strategy for predicting the structure of missense mutant protein based on AlphaFold2 and molecular dynamics.
Zheng L et al.
Briefings in Bioinformatics, 2024
Mutations of evolutionarily conserved aromatic residues suggest that misfolding of the mouse prion protein may commence in multiple ways.
Pal S et al.
Journal of Neurochemistry, 2023
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
Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.
Wu YZ et al.
Neurobiology of Aging, 2023
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt-Jakob Disease.
Kong Y et al.
Viruses, 2023
Recognition Mechanisms between a Nanobody and Disordered Epitopes of the Human Prion Protein: An Integrative Molecular Dynamics Study.
Mollica L et al.
Journal of Chemical Information and Modeling, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Periodic sharp wave complexes identify a distinctive phenotype in Creutzfeldt-Jacob disease.
Castelli A et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2022
Estimation of the number of inherited prion disease mutation carriers in the UK.
Corbie R et al.
European Journal of Human Genetics : Ejhg, 2022
Proposal of new diagnostic criteria for fatal familial insomnia.
Chu M et al.
Journal of Neurology, 2022
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
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
The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.
Won SY et al.
Medicina (kaunas, Lithuania), 2022
The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy.
Giovagnoli AR et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Schmitz M et al.
Brain : a Journal of Neurology, 2022
Blood β-Synuclein and Neurofilament Light Chain During the Course of Prion Disease.
Halbgebauer S et al.
Neurology, 2022
New Drosophila models to uncover the intrinsic and extrinsic factors that mediate the toxicity of the human prion protein.
Myers RR et al.
Disease Models & Mechanisms, 2022
Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases.
Tarozzi M et al.
Bmc Medical Genomics, 2022
[Prion diseases or transmissible spongiform encephalopathies].
Brandel JP
La Revue De Medecine Interne, 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
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
Genetic aspects of human prion diseases.
Appleby BS et al.
Frontiers in Neurology, 2022
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
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
Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.
Thompson AGB et al.
Molecular Psychiatry, 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Mutation-Dependent Refolding of Prion Protein Unveils Amyloidogenic-Related Structural Ramifications: Insights from Molecular Dynamics Simulations.
Palaniappan C et al.
Acs Chemical Neuroscience, 2021
TREM2 expression in the brain and biological fluids in prion diseases.
Diaz-Lucena D et al.
Acta Neuropathologica, 2021
Heidenhain variant of Creutzfeldt-Jakob disease resembles dementia with Lewy bodies.
Tokumitsu K et al.
Psychogeriatrics : the Official Journal of the Japanese Psychogeriatric Society, 2021
A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset.
Nomura T et al.
Prion, 2020
Autoantibodies against the prion protein in individuals with PRNP mutations.
Frontzek K et al.
Neurology, 2020