Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
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
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
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
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
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
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
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 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
Dissecting the clinical heterogeneity of early-onset Alzheimer's disease.
Sirkis DW et al.
Molecular Psychiatry, 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
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
Structure of Tau filaments in Prion protein amyloidoses.
Hallinan GI et al.
Acta Neuropathologica, 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
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
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A et al.
Molecular Neurobiology, 2019
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S et al.
Brain Pathology (zurich, Switzerland), 2019
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 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
Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases.
Jung S et al.
Prion, 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
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
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
Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.
Zhang W et al.
Scientific Reports, 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
A single amino acid (Asp159) from the dog prion protein suppresses the toxicity of the mouse prion protein in Drosophila.
Sanchez-Garcia J et al.
Neurobiology of Disease, 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
Do prion protein gene polymorphisms induce apoptosis in non-mammals?
Birkan T et al.
Journal of Biosciences, 2016
The pathogenesis of soluble PrP fragments containing Aβ binding sites.
Li B
Virus Research, 2016
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.
Tacik P et al.
Neuro-degenerative Diseases, 2016