Associated Papers
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
A Unique Case of Genetic Creutzfeldt-Jakob Disease (E200K Mutation) with CSF-restricted Anti Myelin Oligodendrocyte Glycoprotein Antibody.
Shimizu T et al.
Internal Medicine (tokyo, Japan), 2026
Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.
Appleby BS et al.
Acta Neuropathologica, 2026
M232R Familial Creutzfeldt-Jacob Disease Challenging to Diagnose Due to the Absence of Characteristic Laboratory Findings.
Tanaka Y et al.
Internal Medicine (tokyo, Japan), 2026
A fixed brain seeded amplification assay to complement neuropathological prion disease diagnosis.
Lewis V et al.
Journal of Neuropathology and Experimental Neurology, 2026
Integrated peripheral metabolic and inflammatory biomarker signatures are associated with clinical deterioration in Creutzfeldt-Jakob disease.
Chen ZY et al.
Neurobiology of Disease, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Peripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.
Chen ZY et al.
Cns Neuroscience & Therapeutics, 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
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
A review on current theories and potential therapies for prion diseases.
Udayakumar S et al.
Molecular Biology Reports, 2025
Rapid Neurological Decline in a Patient With Creutzfeldt-Jakob Disease: A Case Report.
Siddiqui MK et al.
Cureus, 2025
GPI-anchorless prion disease is sensitive to oxidative stress and shows potential for treatment with edaravone, based on iPS-derived neuron study.
Matsuzono K et al.
Cellular and Molecular Life Sciences : Cmls, 2025
National Creutzfeldt-Jakob disease research biobank, a novel approach to the establishment of the scientific platform: collaboration between patient advocacy group, scientists, regulators and physicians.
Anane A et al.
Orphanet Journal of Rare Diseases, 2025
In vivo base editing extends lifespan of a humanized mouse model of prion disease.
An M et al.
Nature Medicine, 2025
PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.
Coysh T et al.
Journal of Neurology, 2025
White matter abnormalities in healthy E200K carriers may serve as an early biomarker for genetic Creutzfeldt-Jakob disease (gCJD).
Omer N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.
Delorme C et al.
Annals of Clinical and Translational Neurology, 2025
Reconfigured metabolism brain network in asymptomatic Creutzfeldt-Jakob disease.
Kong Y et al.
Neurobiology of Disease, 2025
[Detection of brain MRI abnormalities before symptom onset in case of Creutzfeldt-Jakob disease with compound heterozygous PRNP mutation (V180I/M232R)].
Miura K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies.
Saeed U et al.
Frontiers in Neurology, 2025
Human Genetic Evidence for New Targets in Prion Diseases: Opportunities and Challenges.
Hill E et al.
Sub-cellular Biochemistry, 2025
Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan.
Rasheed U et al.
Prion, 2024
Cellular Prion Protein Conformational Shift after Liquid-Liquid Phase Separation Regulated by a Polymeric Antagonist and Mutations.
Liu Y et al.
Journal of the American Chemical Society, 2024
Abnormal synaptic architecture in iPSC-derived neurons from a multi-generational family with genetic Creutzfeldt-Jakob disease.
Gojanovich AD et al.
Stem Cell Reports, 2024
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.
Ng ASL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular 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
Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.
Chen Z et al.
Neurobiology of Disease, 2024
Transmission experiments verify sporadic V2 prion in a patient with E200K mutation.
Kishida H et al.
Acta Neuropathologica, 2024
[Clinical characteristics and diagnostics of human spongiform encephalopathies: an update].
Hermann P et al.
Der Nervenarzt, 2024