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
Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.
Sýkora M et al.
Revue Neurologique, 2025
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Clinical phenotype associated with A118V mutation of PRPN gene.
Giannelli T et al.
Journal of Neurology, 2025
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes.
Küçükali F et al.
Brain : a Journal of Neurology, 2025
Search for a genetic cause of variably protease-sensitive prionopathy.
Lian Y et al.
Plos Pathogens, 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
A comprehensive phylogeny of mammalian PRNP gene reveals no influence of prion misfolding propensity on the evolution of this gene.
Sampedro-Torres-Quevedo C et al.
Plos Pathogens, 2025
Search for a genetic cause of variably protease-sensitive prionopathy.
Lian Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.
Cacabelos R et al.
Expert Opinion on Drug Metabolism & Toxicology, 2025
Detection of polymorphisms in the prion-like protein Doppel (PRND) gene in Jeju black cattle.
Nguyen T et al.
Genome, 2025
Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies.
Saeed U et al.
Frontiers in Neurology, 2025
Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan.
Rasheed U et al.
Prion, 2024
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
Stress-Related Chronic Fatigue Syndrome: A Case Report with a Positive Response to Alpha-Methyl-P-Tyrosine (AMPT) Treatment.
Ljungström M et al.
International Journal of Molecular Sciences, 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
Human immunodeficiency virus-associated dementia complex with positive 14-3-3 protein in cerebrospinal fluid: A case report.
He YS et al.
World Journal of Clinical Cases, 2024
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD et al.
Movement Disorders Clinical Practice, 2024
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.
Bui DT et al.
Scientific Reports, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.
Wang SS et al.
Frontiers in Neurology, 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
Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival.
Ahn LY et al.
Frontiers in Cellular Neuroscience, 2024
Polymorphism of prion protein gene (PRNP) in Nigerian sheep.
Adeola AC et al.
Prion, 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
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
Salemi M et al.
Molecular Biology Reports, 2023
Hypothesis: functional age and onset of autosomal dominant genetic prion disease.
Bordonaro M
Theory in Biosciences = Theorie in Den Biowissenschaften, 2023
Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.
Sun S et al.
International Journal of Molecular Sciences, 2023
Effects of the pathological E200K mutation on human prion protein: A computational screening and molecular dynamics approach.
Gharemirshamloo FR et al.
Journal of Cellular Biochemistry, 2023
Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.
Kortazar-Zubizarreta I et al.
Journal of Neuropathology and Experimental Neurology, 2023
First report of a novel polymorphism and genetic characteristics of the leporine prion protein (PRNP) gene.
Kim DJ et al.
Frontiers in Veterinary Science, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases.
Gandoglia I et al.
Prion, 2022
Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome.
Paul AM et al.
Neurology, 2022
No association of prion protein gene (PRNP) polymorphisms with susceptibility to the pandemic 2009 swine flu.
Kim YC et al.
Molecular & Cellular Toxicology, 2022
Conformation-Dependent Influences of Hydrophobic Amino Acids in Two In-Register Parallel β-Sheet Amyloids, an α-Synuclein Amyloid and a Local Structural Model of PrPSc.
Otaki H et al.
Acs Omega, 2022
First report of a strong association between genetic polymorphisms of the prion protein gene (PRNP) and susceptibility to chronic wasting disease in sika deer (Cervus nippon).
Roh IS et al.
Transboundary and Emerging Diseases, 2022
Cryo-EM structures of prion protein filaments from Gerstmann-Sträussler-Scheinker disease.
Hallinan GI et al.
Acta Neuropathologica, 2022
Slow Periodic Spasms and Rapidly Progressive Parkinsonism Due to Cerebral Amyloid Angiopathy.
Silva DP et al.
Movement Disorders Clinical Practice, 2022
The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.
Won SY et al.
Medicina (kaunas, Lithuania), 2022
Prion protein gene mutation detection using long-read Nanopore sequencing.
Kroll F et al.
Scientific Reports, 2022
Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS.
Mortberg MA et al.
Jci Insight, 2022
Novel Single Nucleotide Polymorphisms (SNPs) and Genetic Features of the Prion Protein Gene (PRNP) in Quail (Coturnix japonica).
Kim Y et al.
Frontiers in Veterinary Science, 2022