Associated Papers
Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.
Eraña H et al.
Acta Neuropathologica Communications, 2026
Creutzfeldt-Jakob disease: A comprehensive review of current understanding and research.
Noor H et al.
Journal of the Neurological Sciences, 2024
Biomarker changes preceding symptom onset in genetic prion disease.
Vallabh SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Sleep in Gerstmann-Straüssler-Scheinker disease.
Pérez-Carbonell L et al.
Sleep Medicine, 2023
Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.
Kai H et al.
Heliyon, 2023
Drosophila melanogaster as a model to study autophagy in neurodegenerative diseases induced by proteinopathies.
Santarelli S et al.
Frontiers in Neuroscience, 2023
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
Prion protein gene mutation detection using long-read Nanopore sequencing.
Kroll F et al.
Scientific Reports, 2022
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Sassi C et al.
Scientific Reports, 2021
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
Accumulation of Astrocytic Aquaporin 4 and Aquaporin 1 in Prion Protein Plaques.
Sadashima S et al.
Journal of Neuropathology and Experimental Neurology, 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
Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.
Zerr I et al.
Biomolecules, 2019
Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).
Yoshimura M et al.
Journal of the Neurological Sciences, 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
PrP P102L and Nearby Lysine Mutations Promote Spontaneous In Vitro Formation of Transmissible Prions.
Kraus A et al.
Journal of Virology, 2017
Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease.
Steinacker P et al.
Scientific Reports, 2016
The N Terminus of the Prion Protein Mediates Functional Interactions with the Neuronal Cell Adhesion Molecule (NCAM) Fibronectin Domain.
Slapšak U et al.
The Journal of Biological Chemistry, 2016
[A case of Gerstmann-Sträussler-Scheinker disease presented with numbness in the lower extremities].
Ando R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2016
The non-octarepeat copper binding site of the prion protein is a key regulator of prion conversion.
Giachin G et al.
Scientific Reports, 2015
The influence of PRNP polymorphisms on human prion disease susceptibility: an update.
Kobayashi A et al.
Acta Neuropathologica, 2015
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
Shi Q et al.
Plos One, 2015
Predictive testing for inherited prion disease: report of 22 years experience.
Owen J et al.
European Journal of Human Genetics : Ejhg, 2014
Discriminant analysis of prion sequences for prediction of susceptibility.
Lee JH et al.
Experimental & Molecular Medicine, 2013
Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation.
Alner K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Cyclosporin-A-induced prion protein aggresomes are dynamic quality-control cellular compartments.
Ben-Gedalya T et al.
Journal of Cell Science, 2011
PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.
Bernardi L et al.
Journal of Alzheimer's Disease : Jad, 2011
Prospective 10-year surveillance of human prion diseases in Japan.
Nozaki I et al.
Brain : a Journal of Neurology, 2010
Prion protein-detergent micelle interactions studied by NMR in solution.
Hornemann S et al.
The Journal of Biological Chemistry, 2009
Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins.
Asante EA et al.
The Journal of General Virology, 2009
Accelerated accumulation of misfolded prion protein and spongiform degeneration in a Drosophila model of Gerstmann-Sträussler-Scheinker syndrome.
Gavin BA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits.
Colucci M et al.
Journal of Neuropathology and Experimental Neurology, 2006
Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations.
Hill AF et al.
Brain : a Journal of Neurology, 2006
Accumulation of prion protein in the peripheral nervous system in human prion diseases.
Lee CC et al.
Journal of Neuropathology and Experimental Neurology, 2005
Involvement of the peripheral nervous system in human prion diseases including dural graft associated Creutzfeldt-Jakob disease.
Ishida C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
Comparative computational analysis of prion proteins reveals two fragments with unusual structural properties and a pattern of increase in hydrophobicity associated with disease-promoting mutations.
Kuznetsov IB et al.
Protein Science : a Publication of the Protein Society, 2004
High capacity and low cost detection of prion protein gene variant alleles by denaturing HPLC.
Castro RM et al.
Journal of Neuroscience Methods, 2004
Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs.
Forman MS et al.
Nature Medicine, 2004
RNA mutagenesis and sporadic prion diseases.
Garcion E et al.
Journal of Theoretical Biology, 2004
The effect of disease-associated mutations on the folding pathway of human prion protein.
Apetri AC et al.
The Journal of Biological Chemistry, 2004
Human prion diseases: cause, clinical and diagnostic aspects.
Knight R et al.
Contributions to Microbiology, 2004
Identification of a novel ovine PrP polymorphism and scrapie-resistant genotypes for St. Croix White and a related composite breed.
Seabury CM et al.
Cytogenetic and Genome Research, 2003
[A case of Gerstmann-Sträussler-Scheinker syndrome (GSS) with late onset--a haplotype analysis of Glu219Lys polymorphism in PrP gene].
Takase K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2001
[A case of Gerstmann-Sträussler-Scheinker syndrome (P102L) accompanied by optic atrophy].
Sugai F et al.
Rinsho Shinkeigaku = Clinical Neurology, 2000
[A case of Gerstmann-Sträussler-Scheinker disease with severe muscular atrophy and vertical gaze palsy].
Oba N et al.
Rinsho Shinkeigaku = Clinical Neurology, 2000
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
Finckh U et al.
American Journal of Human Genetics, 2000
Molecular genetics of human prion diseases in Germany.
Windl O et al.
Human Genetics, 1999