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
Enhanced Sensitivity of a Modified Quaking-Induced Conversion Diagnostic Test for the Broad Detection of Sporadic and Inherited Prion Diseases: A Retrospective Study.
Myskiw J et al.
Annals of Neurology, 2026
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
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
Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.
Mok TH et al.
Brain : a Journal of Neurology, 2023
Estimation of the number of inherited prion disease mutation carriers in the UK.
Corbie R et al.
European Journal of Human Genetics : Ejhg, 2022
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
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 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
Impaired transmissibility of atypical prions from genetic CJDG114V.
Cali I et al.
Neurology. Genetics, 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
Hereditary Human Prion Diseases: an Update.
Schmitz M et al.
Molecular Neurobiology, 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
The pathogenesis of soluble PrP fragments containing Aβ binding sites.
Li B
Virus Research, 2016
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 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
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
Atypical prion protein conformation in familial prion disease with PRNP P105T mutation.
Polymenidou M et al.
Brain Pathology (zurich, Switzerland), 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
The consequences of pathogenic mutations to the human prion protein.
van der Kamp MW et al.
Protein Engineering, Design & Selection : Peds, 2009
A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation.
Tunnell E et al.
Neurology, 2008
Human prion disease: molecular pathogenesis, and possible therapeutic targets and strategies.
Baiardi S et al.
Expert Opinion on Therapeutic Targets, 0