Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157.
Holm-Mercer L et al.
Journal of Alzheimer's Disease : Jad, 2025
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Koriath CAM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Disease-Associated Q159X Mutant Prion Protein Is Sufficient to Cause Fatal Degenerative Disease in Mice.
Zhang Y et al.
Molecular Neurobiology, 2024
Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.
Chen Z et al.
Neurobiology of Disease, 2024
Cross-seeding by prion protein inactivates TDP-43.
Polido SA et al.
Brain : a Journal of Neurology, 2024
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy.
Cencini F et al.
European Journal of Neurology, 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
Rapidly progressive dementia and intractable diarrhea: a teaching case report and a systematic review of cognitive impairment in Whipple's disease.
Manini A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genetic aspects of human prion diseases.
Appleby BS et al.
Frontiers in Neurology, 2022
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene (PRNP) in Dogs-A Resistant Animal of Prion Disease.
Kim DJ et al.
International Journal of Molecular Sciences, 2020
Evaluating drug targets through human loss-of-function genetic variation.
Minikel EV et al.
Nature, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
American Association of Neuropathologists, Inc. Abstracts of the 95th Annual Meeting June 6-9, 2019 Atlanta, Georgia.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2019
The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog.
Won SY et al.
International Journal of Molecular Sciences, 2019
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S et al.
Brain Pathology (zurich, Switzerland), 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process.
Canas LS et al.
Neuroimage. Clinical, 2019
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S et al.
Annals of Clinical and Translational Neurology, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.
Race B et al.
Acta Neuropathologica Communications, 2018
The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature.
Caine D et al.
Plos One, 2018
Genetic Creutzfeldt-Jakob disease.
Ladogana A et al.
Handbook of Clinical Neurology, 2018
Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker.
Ghetti B et al.
Handbook of Clinical Neurology, 2018
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2018
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
A novel prion protein variant in a patient with semantic dementia.
Kenny J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Hereditary Human Prion Diseases: an Update.
Schmitz M et al.
Molecular Neurobiology, 2017
Drosophila models of prionopathies: insight into prion protein function, transmission, and neurotoxicity.
Fernandez-Funez P et al.
Current Opinion in Genetics & Development, 2017
Truncated prion protein PrP226* - A structural view on its role in amyloid disease.
Kovač V et al.
Biochemical and Biophysical Research Communications, 2017
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
Takada LT et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.
Fong JC et al.
Journal of Alzheimer's Disease : Jad, 2017
Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study.
De Vita E et al.
Neuroimage. Clinical, 2017
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Anchorless forms of prion protein - Impact of truncation on structure destabilization and prion protein conversion.
Kovač V et al.
Biochemical and Biophysical Research Communications, 2016
C-Terminal-Deleted Prion Protein Fragment Is a Major Accumulated Component of Systemic PrP Deposits in Hereditary Prion Disease With a 2-Bp (CT) Deletion in PRNP Codon 178.
Honda H et al.
Journal of Neuropathology and Experimental Neurology, 2016
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.
Chiesa R et al.
Prion, 2016
The pathogenesis of soluble PrP fragments containing Aβ binding sites.
Li B
Virus Research, 2016
Clinical update of Jakob-Creutzfeldt disease.
Kim MO et al.
Current Opinion in Neurology, 2015
The cognitive profile of prion disease: a prospective clinical and imaging study.
Caine D et al.
Annals of Clinical and Translational Neurology, 2015
Predictive testing for inherited prion disease: report of 22 years experience.
Owen J et al.
European Journal of Human Genetics : Ejhg, 2014
Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
Guerreiro R et al.
Neurobiology of Aging, 2014
Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation.
Themistocleous AC et al.
Journal of Neurology, 2014
Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease.
Zanusso G et al.
The Journal of Biological Chemistry, 2014
Distinct patterns of spread of prion infection in brains of mice expressing anchorless or anchored forms of prion protein.
Rangel A et al.
Acta Neuropathologica Communications, 2014
Prion disease: A newly identified mutation in prion protein is associated with diarrhoea and autonomic neuropathy.
Bible E
Nature Reviews. Neurology, 2014