Associated Papers
Letter to the editor: Expanding the prion disease spectrum - frontotemporal dementia from a novel PRNP frameshift variant.
Neves Pereira J et al.
Journal of the Neurological Sciences, 2025
Psychiatric presentation of Gerstmann-Sträussler-Scheinker disease with 9-OPRI mutation in PRNP gene: a case report.
Atil ES et al.
Journal of Medical Case Reports, 2025
Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.
Poveda S et al.
Eneurologicalsci, 2025
A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.
Chen Z et al.
Prion, 2023
Silence of resident microglia in GPI anchorless prion disease and activation of microglia in Gerstmann-Sträussler-Scheinker disease and sporadic Creutzfeldt-Jakob disease.
Noguchi H et al.
Journal of Neuropathology and Experimental Neurology, 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
Prions and Neurodegenerative Diseases: A Focus on Alzheimer's Disease.
Crestini A et al.
Journal of Alzheimer's Disease : Jad, 2022
Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro.
Shen P et al.
Molecular Neurobiology, 2021
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
Evaluating drug targets through human loss-of-function genetic variation.
Minikel EV et al.
Nature, 2020
Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.
Aguilar-Calvo P et al.
Acta Neuropathologica, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
The cellular prion protein and its derived fragments in human prion diseases and their role as potential biomarkers.
Thüne K et al.
Expert Review of Molecular Diagnostics, 2019
Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.
Rossi M et al.
Viruses, 2019
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S et al.
Brain Pathology (zurich, Switzerland), 2019
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2019
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
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
Genetic human prion disease modelled in PrP transgenic Drosophila.
Thackray AM et al.
The Biochemical Journal, 2017
Hereditary Human Prion Diseases: an Update.
Schmitz M et al.
Molecular Neurobiology, 2017
A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.
Long L et al.
Neurosciences (riyadh, Saudi Arabia), 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
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
Activation of the unfolded protein response and granulovacuolar degeneration are not common features of human prion pathology.
Wiersma VI et al.
Acta Neuropathologica Communications, 2016
Towards authentic transgenic mouse models of heritable PrP prion diseases.
Watts JC et al.
Acta Neuropathologica, 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
Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
Guerreiro R et al.
Neurobiology of Aging, 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
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013
Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy.
Carare RO et al.
Neuropathology and Applied Neurobiology, 2013
Defining the conformational features of anchorless, poorly neuroinvasive prions.
Bett C et al.
Plos Pathogens, 2013
Neuroinflammation and common mechanism in Alzheimer's disease and prion amyloidosis: amyloid-associated proteins, neuroinflammation and neurofibrillary degeneration.
Rozemuller AJ et al.
Neuro-degenerative Diseases, 2012
Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.
Jansen C et al.
Plos One, 2012
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.
Jayadev S et al.
Annals of Neurology, 2011
The prion diseases.
Brown K et al.
Journal of Geriatric Psychiatry and Neurology, 2010
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Beck JA et al.
Human Mutation, 2010
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.
Jansen C et al.
Acta Neuropathologica, 2010
[Eleven years of autopsy on account of Creutzfeldt-Jakob disease in the Netherlands].
Jansen C et al.
Nederlands Tijdschrift Voor Geneeskunde, 2009