Associated Papers
Progressive supranuclear palsy phenotype as an atypical clinical presentation of Creutzfeldt-Jakob disease: A case report and review of the literature.
Costanzo M et al.
Clinical Parkinsonism & Related Disorders, 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
Conformation-Dependent Influences of Hydrophobic Amino Acids in Two In-Register Parallel β-Sheet Amyloids, an α-Synuclein Amyloid and a Local Structural Model of PrPSc.
Otaki H et al.
Acs Omega, 2022
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
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
Lysosomal Quality Control in Prion Diseases.
Majumder P et al.
Molecular Neurobiology, 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
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
Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2015
Brain dopamine transporter binding and glucose metabolism in progressive supranuclear palsy-like creutzfeldt-jakob disease.
Rissanen E et al.
Case Reports in Neurology, 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
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
MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy.
Petrovic IN et al.
Journal of Neurology, 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
Characterization of conformation-dependent prion protein epitopes.
Kang HE et al.
The Journal of Biological Chemistry, 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
Common structural traits across pathogenic mutants of the human prion protein and their implications for familial prion diseases.
Rossetti G et al.
Journal of Molecular Biology, 2011
Mutation directional selection sheds light on prion pathogenesis.
Shen L et al.
Biochemical and Biophysical Research Communications, 2011
The prion diseases.
Brown K et al.
Journal of Geriatric Psychiatry and Neurology, 2010
Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations.
Chen W et al.
Biochemistry, 2010
Prion neurotoxicity: insights from prion protein mutants.
Solomon IH et al.
Current Issues in Molecular Biology, 2010
The consequences of pathogenic mutations to the human prion protein.
van der Kamp MW et al.
Protein Engineering, Design & Selection : Peds, 2009
Functional depletion of mahogunin by cytosolically exposed prion protein contributes to neurodegeneration.
Chakrabarti O et al.
Cell, 2009
Prion protein biosynthesis and its emerging role in neurodegeneration.
Chakrabarti O et al.
Trends in Biochemical Sciences, 2009
Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP).
Hilton DA et al.
Neuropathology and Applied Neurobiology, 2009
PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China.
Zheng L et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008
Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
Rowe DB et al.
Neurology, 2007