Associated Papers
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
Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.
Chen Z et al.
Neurobiology of Disease, 2024
A case of A133V genetic Creutzfeldt-Jakob disease presenting with bilateral thalamic lesions and atypical clinical features.
Yang SL et al.
Acta Neurologica Belgica, 2023
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
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A et al.
Molecular Neurobiology, 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
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Genetic Creutzfeldt-Jakob disease.
Ladogana A 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
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
Transmissibility of Gerstmann-Sträussler-Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity.
Nonno R et al.
Prion, 2016
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
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
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
Mutation directional selection sheds light on prion pathogenesis.
Shen L et al.
Biochemical and Biophysical Research Communications, 2011
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
Molecular diagnosis of human prion disease.
Wadsworth JD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Childhood onset in familial prion disease with a novel mutation in the PRNP gene.
Rogaeva E et al.
Archives of Neurology, 2006
Sporadic and familial CJD: classification and characterisation.
Gambetti P et al.
British Medical Bulletin, 2003
Molecular and clinical classification of human prion disease.
Wadsworth JD et al.
British Medical Bulletin, 2003
Human prion disease: molecular pathogenesis, and possible therapeutic targets and strategies.
Baiardi S et al.
Expert Opinion on Therapeutic Targets, 0