Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Mapping PRNP Polymorphisms in Portuguese Serra da Estrela Ovine Populations: Insights into Scrapie Susceptibility and Farm Animal Improvement.
Rodrigues S et al.
Animals : an Open Access Journal From Mdpi, 2025
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Polymorphism of prion protein gene (PRNP) in Nigerian sheep.
Adeola AC et al.
Prion, 2023
Prospective 25-year surveillance of prion diseases in France, 1992 to 2016: a slow waning of epidemics and an increase in observed sporadic forms.
Denouel A et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin, 2023
Novel Prion Protein Gene Polymorphisms in Awassi Sheep in Three Regions of the Fertile Crescent.
Rashaydeh FS et al.
Veterinary Sciences, 2023
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.
Perucca P et al.
Annals of Neurology, 2022
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Autoantibodies against the prion protein in individuals with PRNP mutations.
Frontzek K et al.
Neurology, 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
Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats.
Kim SK et al.
Scientific Reports, 2019
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.
Bernardi L et al.
International Journal of Molecular Sciences, 2019
Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.
Torrent J et al.
Scientific Reports, 2019
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2018
Prion-like protein gene (PRND) polymorphisms associated with scrapie susceptibility in Korean native black goats.
Jeong MJ et al.
Plos One, 2018
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Epidemiological characteristics of human prion diseases.
Chen C et al.
Infectious Diseases of Poverty, 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
Do prion protein gene polymorphisms induce apoptosis in non-mammals?
Birkan T et al.
Journal of Biosciences, 2016
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
Dominant-negative effects in prion diseases: insights from molecular dynamics simulations on mouse prion protein chimeras.
Cong X et al.
Journal of Biomolecular Structure & Dynamics, 2013
Report about four novel mutations in the prion protein gene.
Schelzke G et al.
Dementia and Geriatric Cognitive Disorders, 2013
The genetics of susceptibility to variant Creutzfeldt-Jakob disease.
Saba R et al.
Public Health Genomics, 2013
Genetic testing for phenotype-causing variants in sheep and goats.
Lühken G
Molecular and Cellular Probes, 2012
Sporadic fatal insomnia with clinical, laboratory, and genetic findings.
Luo JJ et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
Strain specific resistance to murine scrapie associated with a naturally occurring human prion protein polymorphism at residue 171.
Striebel JF et al.
Plos Pathogens, 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
D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.
Appleby BS et al.
Dementia and Geriatric Cognitive Disorders, 2010
Octarepeat changes of prion protein in Parkinson's disease.
Wang V et al.
Parkinsonism & Related Disorders, 2009
Tumor-associated epilepsy and glioma: are there common genetic pathways?
Berntsson SG et al.
Acta Oncologica (stockholm, Sweden), 2009
Genetic susceptibility, evolution and the kuru epidemic.
Mead S et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2008
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
Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.
Kedarisetti KD et al.
Bioinformatics and Biology Insights, 2008
The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population.
Dyrbye H et al.
European Journal of Epidemiology, 2008
Molecular diagnosis of human prion disease.
Wadsworth JD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women.
Labate A et al.
Neuroscience Letters, 2007
Polymorphism distribution of prion protein codon 117, 129 and 171 in Taiwan.
Wang KC et al.
European Journal of Epidemiology, 2007
Cognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171.
Coimbra ER et al.
Epilepsy & Behavior : E&b, 2006
Prion protein gene codon 129 modulates clinical course of neurological Wilson disease.
Grubenbecher S et al.
Neuroreport, 2006
Genetic prion disease: the EUROCJD experience.
Kovács GG et al.
Human Genetics, 2005
Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?
Cavalleri GL et al.
Brain : a Journal of Neurology, 2005