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
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
Early-Onset Spastic Ataxia in a Patient With the Prion (PRNP) p.Val180Ile Variant.
Lee S et al.
Journal of Movement Disorders, 2025
A review on current theories and potential therapies for prion diseases.
Udayakumar S et al.
Molecular Biology Reports, 2025
Reconfigured metabolism brain network in asymptomatic Creutzfeldt-Jakob disease.
Kong Y et al.
Neurobiology of Disease, 2025
Semantic variant primary progressive aphasia with ANXA11 p.D40G.
Lee SM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 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
Creutzfeldt-Jakob Disease With Double Mutations at Codon 180 and Codon 232 of PRNP.
Kim S et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Limbic system synaptic dysfunctions associated with prion disease onset.
Foliaki ST et al.
Acta Neuropathologica Communications, 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
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
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 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
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
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
An autopsy case of variably protease-sensitive prionopathy with Met/Met homogeneity at codon 129.
Uchino A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 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
N-glycosylation is a potent regulator of prion protein neurotoxicity.
Schilling KM et al.
The Journal of Biological Chemistry, 2023
Altered properties of amyloidogenic prion protein in genetic Creutzfeldt-Jakob disease with PRNP V180I mutation in response to pentosan polysulfate.
Shijo M et al.
Brain Pathology (zurich, Switzerland), 2023
Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.
Kai H et al.
Heliyon, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.
Matsubayashi T et al.
International Journal of Molecular Sciences, 2022
A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom.
Nagata T et al.
Prion, 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
Biochemical and Neuropathological Findings in a Creutzfeldt-Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene.
Zanusso G et al.
International Journal of Molecular Sciences, 2022
Proposal of new diagnostic criteria for fatal familial insomnia.
Chu M et al.
Journal of Neurology, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 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
Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases.
Kosami K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage.
Suzuki Y et al.
Cureus, 2022
A Creutzfeldt-Jakob disease patient with V180I mutation survived for 16.5 years after diagnosis.
Ryoo N et al.
Acta Neurologica Belgica, 2022
Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.
Chen Z et al.
Frontiers in Aging Neuroscience, 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
Long-term preservation of pharyngeal swallowing function in MM2-cortical-type sporadic Creutzfeldt-Jakob disease.
Hayashi Y et al.
Prion, 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
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