Research graph
References from Search for a genetic cause of variably protease-sensitive prionopathy. Local targets link to admitted publications; unresolved targets remain external evidence.
Prions
10.1073/pnas.95.23.13363 · 1998 · External reference
Novel proteinaceous infectious particles cause scrapie
10.1126/science.6801762 · 1982 · External reference
Antibodies to a scrapie prion protein
10.1038/310418a0 · 1984 · External reference
Purification and structural studies of a major scrapie prion protein
10.1016/0092-8674(84)90533-6 · 1984 · External reference
Eight prion strains have PrP(Sc) molecules with different conformations
10.1038/2654 · 1998 · External reference
A novel human disease with abnormal prion protein sensitive to protease
10.1002/ana.21420 · 2008 · External reference
Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein
10.1002/ana.22094 · 2010 · External reference
Variably protease-sensitive prionopathy
10.1016/b978-0-444-63945-5.00010-6 · 2018 · External reference
Transmission characteristics of variably protease-sensitive prionopathy
10.3201/eid2012.140548 · 2014 · External reference
Variably protease-sensitive prionopathy, a unique prion variant with inefficient transmission properties
10.3201/eid2012.140214 · 2014 · External reference
Variable protease-sensitive prionopathy transmission to bank voles
10.3201/eid2501.180807 · 2019 · External reference
High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions
10.1038/s41598-017-10922-w · 2017 · External reference
Diagnosis of prion diseases by RT-QuIC results in improved surveillance
10.1212/wnl.0000000000010086 · 2020 · External reference
An autopsy case of variably protease-sensitive prionopathy with Met/Met homogeneity at codon 129
10.1111/neup.12911 · 2023 · External reference
Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases
10.1007/s00401-023-02661-2 · 2024 · External reference
A novel phenotype of sporadic Creutzfeldt-Jakob disease
10.1136/jnnp.2007.115444 · 2007 · External reference
A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report
10.1186/1471-2377-10-99 · 2010 · External reference
Variably protease-sensitive prionopathy in a PRNP codon 129 heterozygous UK patient with co-existing tau, α synuclein and Aβ pathology
10.1007/s00401-010-0766-y · 2010 · External reference
Concurrent variably protease-sensitive prionopathy and amyotrophic lateral sclerosis
10.1007/s00401-014-1309-8 · 2014 · External reference
A case of variably protease-sensitive prionopathy treated with doxycyclin
10.1136/jnnp-2014-309871 · 2015 · External reference
Quantifying prion disease penetrance using large population control cohorts
10.1126/scitranslmed.aad5169 · 2016 · External reference
Sporadic and infectious human prion diseases
2017 · External reference
Genetic factors in mammalian prion diseases
10.1146/annurev-genet-120213-092352 · 2019 · External reference
Increased frequency of positive family history of dementia in sporadic CJD
10.1016/j.neurobiolaging.2007.07.014 · 2009 · External reference
Prion disease incidence in the United States: 2003-2015
10.1212/wnl.0000000000008680 · 2020 · External reference
Unresolved reference
External reference
Using high-resolution variant frequencies to empower clinical genome interpretation
10.1038/gim.2017.26 · 2017 · External reference
Estimation of the number of inherited prion disease mutation carriers in the UK
10.1038/s41431-022-01132-8 · 2022 · External reference
Unresolved reference
External reference
A genomic mutational constraint map using variation in 76,156 human genomes
10.1038/s41586-023-06045-0 · 2024 · External reference
seqr: A web-based analysis and collaboration tool for rare disease genomics
2022 · External reference
ClinVar: improving access to variant interpretations and supporting evidence
10.1093/nar/gkx1153 · 2018 · External reference
Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials
10.1038/s41598-022-21820-1 · 2022 · External reference
The GTEx Consortium atlas of genetic regulatory effects across human tissues
10.1126/science.aaz1776 · 2020 · External reference
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
10.1016/s1474-4422(20)30273-8 · 2020 · External reference
Publicly available data provide evidence against NR1H3 R415Q causing multiple sclerosis
10.1016/j.neuron.2016.09.054 · 2016 · External reference
A structural variation reference for medical and population genetics
10.1038/s41586-020-2287-8 · 2020 · External reference
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease
10.1186/s12916-020-01608-8 · 2020 · External reference
Fluid biomarkers in individuals at risk for genetic prion disease up to disease conversion
10.1212/wnl.0000000000209506 · 2024 · External reference
Unresolved reference
External reference
The ensembl variant effect predictor
10.1186/s13059-016-0974-4 · 2016 · External reference
