Associated Papers
D178N prion protein mutation endows RML prions with new strain properties that do not mimic human genetic prion diseases.
Masone A et al.
Acta Neuropathologica, 2026
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Mutant knock-in mice display enhanced susceptibility to pure prion protein fibrils.
Walsh DJ et al.
The Journal of General Virology, 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
Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.
Appleby BS et al.
Acta Neuropathologica, 2026
Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene.
Tahir W et al.
Prion, 2025
The Risk of Transmission of Genetic Prion Diseases is Greater Than 50.
Kortazar-Zubizarreta I et al.
European Journal of Neurology, 2025
Structural and cellular properties of human prion protein oligomers.
Emendato A et al.
Communications Biology, 2025
Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family.
Da Silva Correia A et al.
Journal of Neurology, 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
Follow-up multimodal changes on PET/MRI in fatal familial insomnia patient: a case report.
Chen Z et al.
Bmc 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
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.
Coysh T et al.
Journal of Neurology, 2025
Fatal familial insomnia: A new case description with response to thoracic sympathetic nerve thermocoagulation and stellate ganglion block.
Chen Y et al.
Sleep Medicine, 2025
Detection of polymorphisms in the prion-like protein Doppel (PRND) gene in Jeju black cattle.
Nguyen T et al.
Genome, 2025
Prion Protein Endoproteolysis: Cleavage Sites, Mechanisms and Connections to Prion Disease.
Castle AR et al.
Journal of Neurochemistry, 2025
Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies.
Saeed U et al.
Frontiers in Neurology, 2025
Infecting human brain organoids with FFI or sCJD preserves prion traits regardless of host genotype.
Groveman BR et al.
Npj Dementia, 2025
A fatal familial insomnia patient initially misdiagnosed as Alzheimer's disease: a case report.
Qiao M et al.
Bmc Neurology, 2024
A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature.
Wang Z et al.
Prion, 2024
Fatal familial insomnia: Reporting a case of the rare nightmare.
Hogue E et al.
Journal of Postgraduate Medicine, 2024
Involvement of the nigrostriatal system in Gerstman-Sträussler-Scheinker disease with the PRNP-P102L mutation.
Ono N et al.
Journal of the Neurological Sciences, 2024
Convergent generation of atypical prions in knockin mouse models of genetic prion disease.
Mehra S et al.
The Journal of Clinical Investigation, 2024
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion.
Vallabh SM et al.
Neurology, 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
[Clinical characteristics and diagnostics of human spongiform encephalopathies: an update].
Hermann P et al.
Der Nervenarzt, 2024
Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
Walsh DJ et al.
Plos Pathogens, 2024
Characteristics of Creutzfeldt-Jakob disease at Siriraj Hospital, Thailand: Case series and literature review.
Dumrikarnlert C et al.
Clinical Parkinsonism & Related Disorders, 2024
Biomarker changes preceding symptom onset in genetic prion disease.
Vallabh SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
V180I genetic Creutzfeldt-Jakob disease: Severe degeneration of the inferior olivary nucleus in an autopsied patient with identification of the M2T prion strain.
Watanabe M et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2023
Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene.
Liang DL 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
Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.
Wu YZ et al.
Neurobiology of Aging, 2023
Anti-prion drugs do not improve survival in knock-in models of inherited prion disease.
Walsh DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
N-glycosylation is a potent regulator of prion protein neurotoxicity.
Schilling KM et al.
The Journal of Biological Chemistry, 2023
Novel histotypes of sporadic Creutzfeldt-Jakob disease linked to 129MV genotype.
Cracco L et al.
Acta Neuropathologica Communications, 2023
Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia.
Thüne K et al.
Cells, 2023
Familial Creutzfeldt-Jakob Disease with early onset myoclonus: A case for fulminant progression.
Naskar I et al.
Indian Journal of Psychiatry, 2023
Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.
Mok TH et al.
Brain : a Journal of Neurology, 2023
Sporadic Fatal Insomnia presenting with agrypnia excitata and rapidly progressive dementia: a case report.
Cannizzaro M et al.
Journal of Neurology, 2023