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Human Respiratory and Gut Microbiomes—Do They Really Contribute to Respiratory Health?

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Sporadic Creutzfeldt-Jakob Disease in 2 Plasma Product Recipients, United Kingdom

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Early-onset Alzheimer’s disease patient with prion (PRNP) p.Val180Ile mutation

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Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

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The Evolution of Experimental Rodent Models for Prion Diseases

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A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family

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Evidence for penetrance in patients without a family history of disease: a systematic review

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Novel regulators of PrP C expression as potential therapeutic targets in prion diseases

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Advancing phage therapy through the lens of virus host-breadth and emergence potential

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Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases

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Cardiac glycoside-mediated turnover of Na, K-ATPases as a rational approach to reducing cell surface levels of the cellular prion protein

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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

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Translational medicine in the Age of Big Data

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Molecular Features of the Zn2+ Binding Site in the Prion Protein Probed by 113Cd NMR

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ALPK3: a full spectrum cardiomyopathy gene?

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Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy

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Functional significance of germline EPAS1 variants

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Prion Mutations in Republic of Republic of Korea, China, and Japan

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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

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Preserved regional cerebral blood flow in the occipital cortices, brainstem, and cerebellum of patients with V180I-129M genetic Creutzfeldt-Jakob disease in serial SPECT studies

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Population data improves variant interpretation in autosomal dominant polycystic kidney disease

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CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual

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Autoantibodies against the prion protein in individuals with PRNP mutations

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A radical revision of human genetics

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Genetic causes and modifiers of prion diseases

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A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

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Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors

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Recent clinical trials in idiopathic inflammatory myopathies

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Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases

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Identification of a Cardiac Glycoside Exhibiting Favorable Brain Bioavailability and Potency for Reducing Levels of the Cellular Prion Protein

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Evaluating the causality of novel sequence variants in the prion protein gene by example

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Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease

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Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

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A valine-to-lysine substitution at position 210 induces structural conversion of prion protein into a β-sheet rich oligomer

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Function of Prion Protein and the Family Member, Shadoo

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Scleral ossicles: angiogenic scaffolds, a novel biomaterial for regenerative medicine applications

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An in vivo 11C‐ PK PET study of microglia activation in Fatal Familial Insomnia

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SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges

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Cell-secreted extracellular matrix influences cellular composition sequestered from unprocessed bone marrow aspirate for osteogenic grafts

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METHODS TO ENSURE THE REPRODUCIBILITY OF BIOMEDICAL RESEARCH

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Doxycycline rescues recognition memory and circadian motor rhythmicity but does not prevent terminal disease in fatal familial insomnia mice

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Prion protein lowering is a disease-modifying therapy across prion disease stages, strains, and endpointsPreprint

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Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt–Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene

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A point mutation in GPI-attachment signal peptide accelerates the development of prion disease

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Abnormal synaptic architecture in iPSC-derived neurons from a multi-generational family with genetic Creutzfeldt-Jakob disease

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Evaluation for regional difference of skin-gas ethanol and sweat rate using alcohol dehydrogenase-mediated fluorometric gas-imaging system (sniff-cam)

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Clinical diagnosis of human prion disease

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Stress and viral insults do not trigger E200K PrP conversion in human cerebral organoids

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Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions

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Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease

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Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value

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Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease

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The importance of prion research

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Replication Redux: The Reproducibility Crisis and the Case of Deworming

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Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

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Translating genomic risk into an early detection strategy for sarcoma

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Comprehensive and Methodical: Diagnostic and Management Approaches to Rapidly Progressive Dementia

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Intrinsic toxicity of the cellular prion protein is regulated by its conserved central region

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Estimation of the number of inherited prion disease mutation carriers in the UK

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Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis

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Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach

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Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion

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Common therapeutic strategies for prion and Alzheimer’s diseases

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Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP : comparative analysis of patients identified in the Chinese National CJD Surveillance System

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Superheroes of disease resistance

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Prion diseases: Lessons from historical outbreaks and potential emerging ones

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Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease

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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., Brandel, J., Peckeu, L., Seilhean, D., Bouaziz-Amar, É., Quadrio, I., Oudart, J., Lehmann, S., Bellecave, P., Laplanche, J., et al. (2023) · Eurosurveillance · doi:10.2807/1560-7917.es.2023.28.50.2300101 · Cited by 6

The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling

Paterson, A. D., Seok, S.-C., & Vieland, V. J. (2023) · PLoS ONE · doi:10.1371/journal.pone.0290336 · Cited by 6

Genetics of common forms of epilepsy

Koeleman, B. P. C. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30400-8 · Cited by 6

A novel prion protein variant in a patient with semantic dementia

Kenny, J., Woollacott, I., Koriath, C., Hosszu, L. L. P., Adamson, G., Rudge, P., Rossor, M. N., Collinge, J., Rohrer, J. D., & Mead, S. (2017) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2017-315577 · Cited by 6

Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene

Ito, Y., Sanjo, N., Hizume, M., Kobayashi, A., Ohgami, T., Satoh, K., Hamaguchi, T., Yamada, M., Kitamoto, T., Mizusawa, H., et al. (2018) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2018.01.119 · Cited by 6

Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease

Bagyinszky, E., Yang, Y., Giau, V. V., Youn, Y. C., An, S. S. A., & Kim, S. (2019) · Clinical Interventions in Aging · doi:10.2147/cia.s210909 · Cited by 6

Genetic Creutzfeldt–Jakob disease‐M232R with the cooccurrence of multiple prion strains, M1 + M2C + M2T : Report of an autopsy case

Shintaku, M., Nakamura, T., Kaneda, D., Shinde, A., Kusaka, H., Takeuchi, A., & Kitamoto, T. (2021) · Neuropathology · doi:10.1111/neup.12722 · Cited by 6

A Practical Primer on Prion Pathology

Appleby, B. S., Rhoads, D. D., Mente, K., & Cohen, M. L. (2018) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nly019 · Cited by 6

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer

Pinheiro, M., Lupinacci, F. C. S., Santiago, K. M., Drigo, S. A., Marchi, F. A., Fonseca‐Alves, C. E., Andrade, S. C. S., Aagaard, M. M., Basso, T. R., dos Reis, M. B., et al. (2020) · Cancers · doi:10.3390/cancers12051289 · Cited by 6

Novel quaternary structures of the human prion protein globular domain

Bortot, L. O., Rangel, V. L., Pavlovici, F. A., Omari, K. E., Wagner, A., Brandão-Neto, J., Talon, R., von Delft, F., Reidenbach, A. G., Vallabh, S. M., et al. (2020) · Biochimie · doi:10.1016/j.biochi.2021.09.005 · Cited by 6

Structure and Dynamics of the Misfolding Intermediate in the Pathogenic T183A Prion Protein Mutant

Biancaniello, C., Emendato, A., & Simone, A. D. (2025) · Journal of Chemical Theory and Computation · doi:10.1021/acs.jctc.5c00742 · Cited by 5

Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

Piqueras‐Flores, J., Villacorta, E., Galvin, J., Climent, V. E., Escobar-López, L., Amor‐Salamanca, A., García-Hernández, S., Esmonde, S., Rio, J. M., Pérez, M. S., et al. (2023) · Journal of Medical Genetics · doi:10.1136/jmg-2023-109413 · Cited by 5

Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease

McDonough, G. A., Cheng, Y., Morillo, K. S., Doan, R. N., Zhou, Z., Kenny, C. J., Foutz, A., Kim, C., Cohen, M. L., Appleby, B. S., et al. (2024) · Acta Neuropathologica · doi:10.1007/s00401-024-02774-2 · Cited by 5

Update on a brain-penetrant cardiac glycoside that can lower cellular prion protein levels in human and guinea pig paradigms

Eid, S., Zhao, W., Williams, D., Nasser, Z., Griffin, J. K., Nagorny, P., & Schmitt‐Ulms, G. (2024) · PLoS ONE · doi:10.1371/journal.pone.0308821 · Cited by 5

Huntington’s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

Koriath, C., Guntoro, F., Norsworthy, P. J., Dolzhenko, E., Eberle, M. A., Moss, D. J. H., Flower, M. D., Hummerich, H., Rosser, A., Tabrizi, S. J., et al. (2024) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2024-333602 · Cited by 5

A longitudinal 18F-FDG PET/MRI study in asymptomatic stage of genetic Creutzfeldt–Jakob disease linked to G114V mutation

Chu, M. K., Chen, Z., Nie, B., Liu, L., Xie, K., Cui, Y., Chen, K., Rosa‐Neto, P., & Wu, L. (2022) · Journal of Neurology · doi:10.1007/s00415-022-11288-4 · Cited by 5

Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia

Nan, H., Liu, L., Chen, Z., Chu, M. K., Li, J., Jing, D., Wang, Y., & Wu, L. (2023) · Clinical Genetics · doi:10.1111/cge.14354 · Cited by 5

Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation

Townley, R. A., Polsinelli, A. J., Fields, J. A., Machulda, M. M., Jones, D. T., Graff‐Radford, J., Kantarci, K., Lowe, V. J., Rademakers, R., Baker, M. C., et al. (2020) · Neurocase · doi:10.1080/13554794.2020.1787458 · Cited by 5

Hereditary E200K mutation within the prion protein gene alters human iPSC derived cardiomyocyte function

Wood, A. R., Foliaki, S. T., Groveman, B. R., Walters, R. O., Williams, K., Yuan, J., Zou, W., & Haigh, C. L. (2022) · Scientific Reports · doi:10.1038/s41598-022-19631-5 · Cited by 5

Omics of Prion Diseases

Vanni, S. (2017) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2017.05.004 · Cited by 5

Loss of STI 1‐mediated neuronal survival and differentiation in disease‐associated mutations of prion protein

Landemberger, M. C., de Oliveira, G. P., Machado, C. F., Gollob, K. J., & Martins, V. R. (2018) · Journal of Neurochemistry · doi:10.1111/jnc.14305 · Cited by 5

Prion variant pathogenicity through large-scale population sequencing

Burgess, D. J. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.9 · Cited by 2

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases

Ruhan, A., Jia, X.-X., Zhou, D.-H., Wu, Y.-Z., Wang, Y., Zhang, W. W., Xiao, K., Liang, D.-L., Gao, L., Zhou, W., et al. (2026) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzag054

Genetics of Prion Disease

Mastrianni, J. A. (2023) · Springer eBooks · doi:10.1007/978-3-031-20565-1_19 · Cited by 3

Evaluating the causality of novel sequence variants in the prion protein gene by example

Mok, T. H., Koriath, C., Jaunmuktane, Z., Campbell, T., Joiner, S., Wadsworth, J. D. F., Hosszu, L. L. P., Brandner, S., Parvez, A., Truelsen, T. C., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.05.011 · Cited by 12

Mortality of Individuals With PRNP Variants Associated With Prion Disease in the United States, 1998–2024

Lian, Y., Kotobelli, K., Glisic, K., Sprague, D. A., Vallabh, S. M., Appleby, B. S., & Minikel, E. V. (2026) · Neurology Genetics · doi:10.1212/nxg.0000000000200423 · Cited by 3