Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Expert commentary: Teaching points from A young patient with spastic paraparesis and ataxia due to P102L GSS.
Ganguly J et al.
Parkinsonism & Related Disorders, 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
Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.
Eraña H et al.
Acta Neuropathologica Communications, 2026
Molecular Mechanisms and Therapeutic Potential of Degron-Mediated Proteostasis Regulation in Neurodegenerative Diseases.
Nishanth DS et al.
Cellular and Molecular Neurobiology, 2026
Psychiatric presentation of Gerstmann-Sträussler-Scheinker disease with 9-OPRI mutation in PRNP gene: a case report.
Atil ES et al.
Journal of Medical Case Reports, 2025
Differential pathology of P102L-associated Gerstmann-Stäussler-Scheinker disease: exclusive presence of 8-kDa protease-resistant prion protein vs. co-existence of 8-kDa and type-1 protease-resistant prion protein, with a focus on codon 129 polymorphism.
Noguchi H et al.
Prion, 2025
Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.
Poveda S et al.
Eneurologicalsci, 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
Substitution of histidine 95 by tyrosine in the prion protein causes spontaneous neurodegeneration in transgenic mice.
Torres JM et al.
Plos Pathogens, 2025
Clinical phenotype associated with A118V mutation of PRPN gene.
Giannelli T et al.
Journal of Neurology, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.
Coysh 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
Human Genetic Evidence for New Targets in Prion Diseases: Opportunities and Challenges.
Hill E et al.
Sub-cellular Biochemistry, 2025
Copper binding alters the core structure of amyloid fibrils formed by Y145Stop human prion protein.
Sridharan V et al.
Physical Chemistry Chemical Physics : Pccp, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.
Chen Z et al.
Neurobiology of Disease, 2024
Accumulation Area of a Japanese PRNP P102L Variant Associated With Gerstmann-Sträussler-Scheinker Disease: The Ariake PRNP P102L Variant.
Suzuyama K et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
Walsh DJ et al.
Plos Pathogens, 2024
The first meta-analysis of the G96S single nucleotide polymorphism (SNP) of the prion protein gene (PRNP) with chronic wasting disease in white-tailed deer.
Won SY et al.
Frontiers in Veterinary Science, 2024
A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.
Chen Z et al.
Prion, 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
F198S Gerstmann-Sträussler-Scheinker Syndrome With Parkinsonism, Dyskinesia, and Abnormal (I-123)-FP-CIT Single-Photon Emission Computed Tomography: A Case Report.
Jiang RY et al.
Cureus, 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
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 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
Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.
Eraña H et al.
Journal of Neurology, 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 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
Genetic aspects of human prion diseases.
Appleby BS et al.
Frontiers in Neurology, 2022
Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.
Jankovska N et al.
International Journal of Molecular Sciences, 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
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T et al.
Alzheimer's Research & Therapy, 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
Genetic prion disease-related mutation E196K displays a novel amyloid fibril structure revealed by cryo-EM.
Wang LQ et al.
Science Advances, 2021
13C and 15N chemical shift assignments of A117V and M129V human Y145Stop prion protein amyloid fibrils.
Dao HH et al.
Biomolecular Nmr Assignments, 2021
N-Terminal Regions of Prion Protein: Functions and Roles in Prion Diseases.
Hara H et al.
International Journal of Molecular Sciences, 2020
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
Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS.
Asante EA et al.
Plos Biology, 2020
Isolation of infectious, non-fibrillar and oligomeric prions from a genetic prion disease.
Vanni I et al.
Brain : a Journal of Neurology, 2020
Cryo-EM structure of a human prion fibril with a hydrophobic, protease-resistant core.
Glynn C et al.
Nature Structural & Molecular Biology, 2020