Associated Papers
Peripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.
Chen ZY et al.
Cns Neuroscience & Therapeutics, 2026
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017.
Sun Y et al.
Clinical Epidemiology, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.
Kim YC et al.
Bmc Genomics, 2019
Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.
Jani V et al.
Rsc Advances, 2019
Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.
Rossi M et al.
Viruses, 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
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
Use of molecular dynamics simulation to explore structural facets of human prion protein with pathogenic mutations.
Borgohain G et al.
Biophysical Chemistry, 2016
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
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV et al.
Science Translational Medicine, 2016
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
Shi Q et al.
Plos One, 2015
Acid-induced molten globule state of a prion protein: crucial role of Strand 1-Helix 1-Strand 2 segment.
Honda RP et al.
The Journal of Biological Chemistry, 2014
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
The landscape of the prion protein's structural response to mutation revealed by principal component analysis of multiple NMR ensembles.
Gendoo DM et al.
Plos Computational 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
Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis.
Capellari S et al.
Acta Neuropathologica, 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
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies.
Ladogana A et al.
Journal of Neurology, 2009
The consequences of pathogenic mutations to the human prion protein.
van der Kamp MW et al.
Protein Engineering, Design & Selection : Peds, 2009
Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.
Kedarisetti KD et al.
Bioinformatics and Biology Insights, 2008
ApoE distribution and family history in genetic prion diseases in Germany.
Krasnianski A et al.
Journal of Molecular Neuroscience : Mn, 2008
Molecular diagnosis of human prion disease.
Wadsworth JD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Creutzfeldt-Jakob disease in Germany: a prospective 12-year surveillance.
Heinemann U et al.
Brain : a Journal of Neurology, 2007
Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.
Pastore M et al.
The American Journal of Pathology, 2005
Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene.
Krebs B et al.
Neurogenetics, 2005
Variation of the prion gene in chimpanzees and its implication for prion diseases.
Soldevila M et al.
Neuroscience Letters, 2004
Sporadic and familial CJD: classification and characterisation.
Gambetti P et al.
British Medical Bulletin, 2003