Associated Papers
Expert commentary: Teaching points from A young patient with spastic paraparesis and ataxia due to P102L GSS.
Ganguly J et al.
Parkinsonism & Related Disorders, 2026
Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.
Poveda S et al.
Eneurologicalsci, 2025
Structural and cellular properties of human prion protein oligomers.
Emendato A et al.
Communications Biology, 2025
Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.
Chen Z et al.
Neurobiology of Disease, 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
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Schmitz M et al.
Brain : a Journal of Neurology, 2022
Blood β-Synuclein and Neurofilament Light Chain During the Course of Prion Disease.
Halbgebauer S et al.
Neurology, 2022
Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.
Jankovska N et al.
International Journal of Molecular Sciences, 2021
Mechanism of misfolding of the human prion protein revealed by a pathological mutation.
Sanz-Hernández M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
An unusual familial dementia associated with G131V PRNP mutation.
Yetim E et al.
European Journal of Neurology, 2021
A rare challenge in general surgery: double surgical procedure for large and small bowel obstruction in a patient with Gerstmann- Sträussler-Scheinker syndrome.
Costanzi A et al.
Intractable & Rare Diseases Research, 2021
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.
Won SY et al.
International Journal of Molecular Sciences, 2020
Gerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism.
Baiardi S et al.
Neurology. Genetics, 2020
Structural insight into conformational change in prion protein by breakage of electrostatic network around H187 due to its protonation.
Lee J et al.
Scientific Reports, 2019
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
Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.
Wang J et al.
Journal of Clinical Neurology (seoul, Korea), 2019
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.
Di Fede G et al.
Acta Neuropathologica Communications, 2019
Movement Disorders in Prionopathies: A Systematic Review.
Rodriguez-Porcel F et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019
An autopsy report of three kindred in a Gerstmann-Sträussler-Scheinker disease P105L family with a special reference to prion protein, tau, and beta-amyloid.
Ishizawa K et al.
Brain and Behavior, 2018
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker.
Ghetti B et al.
Handbook of Clinical Neurology, 2018
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.
Lattanzio F et al.
Acta Neuropathologica, 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
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
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
Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2015
Selective vulnerability to neurodegenerative disease: the curious case of Prion Protein.
Jackson WS
Disease Models & Mechanisms, 2014
Systematic investigation of predicted effect of nonsynonymous SNPs in human prion protein gene: a molecular modeling and molecular dynamics study.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2014
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013
Polar substitutions in helix 3 of the prion protein produce transmembrane isoforms that disturb vesicle trafficking.
Sanchez-Garcia J et al.
Human Molecular Genetics, 2013
Discriminant analysis of prion sequences for prediction of susceptibility.
Lee JH et al.
Experimental & Molecular Medicine, 2013
Probing early misfolding events in prion protein mutants by NMR spectroscopy.
Giachin G et al.
Molecules (basel, Switzerland), 2013
Genetics of prion diseases.
Lloyd SE et al.
Current Opinion in Genetics & Development, 2013
Conformational conversion of prion protein in prion diseases.
Zhou Z et al.
Acta Biochimica Et Biophysica Sinica, 2013
Burial of the polymorphic residue 129 in amyloid fibrils of prion stop mutants.
Skora L et al.
The Journal of Biological Chemistry, 2013
Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
Plate A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.
Rusina R et al.
Neurocase, 2013
Report about four novel mutations in the prion protein gene.
Schelzke G et al.
Dementia and Geriatric Cognitive Disorders, 2013
In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach.
Doss CG et al.
Cell Biochemistry and Biophysics, 2013
Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family.
Popova SN et al.
Acta Neurologica Scandinavica, 2012
Structural rearrangements at physiological pH: nuclear magnetic resonance insights from the V210I human prion protein mutant.
Biljan I et al.
Biochemistry, 2012
Structural basis for the protective effect of the human prion protein carrying the dominant-negative E219K polymorphism.
Biljan I et al.
The Biochemical Journal, 2012
Exploring structural and thermodynamic stabilities of human prion protein pathogenic mutants D202N, E211Q and Q217R.
Guo J et al.
Journal of Structural Biology, 2012