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
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
Differential pathology of P102L-associated Gerstmann-Stäussler-Scheinker disease: exclusive presence of 8-kDa protease-resistant prion protein vs. co-existence of 8-kDa and type-1 protease-resistant prion protein, with a focus on codon 129 polymorphism.
Noguchi H et al.
Prion, 2025
Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.
Poveda S et al.
Eneurologicalsci, 2025
Mortality of individuals with antemortem genetic testing for PRNP variants in the United States, 1998-2024.
Lian Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical phenotype associated with A118V mutation of PRPN gene.
Giannelli T et al.
Journal of Neurology, 2025
PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.
Coysh T et al.
Journal of Neurology, 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
Detection of polymorphisms in the prion-like protein Doppel (PRND) gene in Jeju black cattle.
Nguyen T et al.
Genome, 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
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD et al.
Movement Disorders Clinical Practice, 2024
Dopaminergic neurodegeneration in Gerstmann-Sträussler-Scheinker (P102L) disease: insights from imaging and pathological examination.
Irie KI et al.
Frontiers in Neurology, 2024
The first meta-analysis of the G96S single nucleotide polymorphism (SNP) of the prion protein gene (PRNP) with chronic wasting disease in white-tailed deer.
Won SY et al.
Frontiers in Veterinary Science, 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
Serial changes in regional cerebral blood flow in Gerstmann-Sträussler-Scheinker disease caused by a Pro-to-Leu mutation at codon 105 in the prion protein gene.
Kawai H et al.
Prion, 2023
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023
Proposal of new diagnostic criteria for fatal familial insomnia.
Chu M et al.
Journal of Neurology, 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 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
Neurotoxicity of oligomers of phosphorylated Tau protein carrying tauopathy-associated mutation is inhibited by prion protein.
Nieznanska H et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T et al.
Alzheimer's Research & Therapy, 2021
Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.
Thompson AGB et al.
Molecular Psychiatry, 2021
MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.
Contiliani DF et al.
Cells, 2021
13C and 15N chemical shift assignments of A117V and M129V human Y145Stop prion protein amyloid fibrils.
Dao HH et al.
Biomolecular Nmr Assignments, 2021
Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.
Wu X et al.
Prion, 2020
A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset.
Nomura T et al.
Prion, 2020
Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients.
Xiao K et al.
Pathogens (basel, Switzerland), 2020
Cellular Prion Protein (PrPc): Putative Interacting Partners and Consequences of the Interaction.
Miranzadeh Mahabadi H et al.
International Journal of Molecular Sciences, 2020
N-Terminal Regions of Prion Protein: Functions and Roles in Prion Diseases.
Hara H et al.
International Journal of Molecular Sciences, 2020
Structural effects of the highly protective V127 polymorphism on human prion protein.
Hosszu LLP et al.
Communications Biology, 2020
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
Biophysical characterization of oligomerization and fibrillization of the G131V pathogenic mutant of human prion protein.
Zhang M et al.
Acta Biochimica Et Biophysica Sinica, 2019
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
Age at onset in genetic prion disease and the design of preventive clinical trials.
Minikel EV et al.
Neurology, 2019
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A et al.
Molecular Neurobiology, 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
Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report.
Dai Y et al.
Prion, 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
Loss of STI1-mediated neuronal survival and differentiation in disease-associated mutations of prion protein.
Landemberger MC et al.
Journal of Neurochemistry, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.
Matamoros-Angles A et al.
Molecular Neurobiology, 2018
A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.
Wang J et al.
Prion, 2018
Lysosomal Quality Control in Prion Diseases.
Majumder P et al.
Molecular Neurobiology, 2018