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Article

Akhtar, S; Grizenkova, J; Wenborn, A; Hummerich, H; Fernandez de Marco, M; Brandner, S; Collinge, J; (2013) Sod1 deficiency reduces incubation time in mouse models of prion disease. PLoS One , 8 (1) , Article e54454. 10.1371/journal.pone.0054454. Green open access
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Akhtar, S; Wenborn, A; Brandner, S; Collinge, J; Lloyd, SE; (2011) Sex effects in mouse prion disease incubation time. PLOS One , 6 (12) , Article e28741. 10.1371/journal.pone.0028741. Green open access
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Asante, EA; Grimshaw, A; Smidak, M; Jakubcova, T; Tomlinson, A; Jeelani, A; Hamdan, S; ... Collinge, J; + view all (2015) Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS. PLOS Pathogens , 11 (7) , Article e1004953. 10.1371/journal.ppat.1004953. Green open access
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Asante, EA; Linehan, JM; Smidak, M; Tomlinson, A; Grimshaw, A; Jeelani, A; Jakubcova, T; ... Collinge, J; + view all (2013) Inherited Prion Disease A117V Is Not Simply a Proteinopathy but Produces Prions Transmissible to Transgenic Mice Expressing Homologous Prion Protein. PLoS Pathog , 9 (9) , Article e1003643. 10.1371/journal.ppat.1003643. Green open access
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Asante, EA; Linehan, JM; Tomlinson, AD; Jakubcova, T; Hamdan, S; Grimshaw, A; Smidak, M; ... Collinge, J; + view all (2020) Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS. PLOS Biology , 18 (6) , Article e3000725. 10.1371/journal.pbio.3000725. Green open access
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Asante, EA; Smidak, M; Grimshaw, A; Houghton, R; Tomlinson, A; Jeelani, A; Jakubcova, T; ... Collinge, J; + view all (2015) A naturally occurring variant of the human prion protein completely prevents prion disease. Nature , 522 pp. 478-481. 10.1038/nature14510. Green open access
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Balendra, R; Uphill, J; Collinson, C; Druyeh, R; Adamson, G; Hummerich, H; Zerr, I; ... Mead, S; + view all (2016) Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study. BMC Medical Genetics , 17 , Article 28. 10.1186/s12881-016-0278-2. Green open access
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Banerjee, G; Farmer, SF; Hyare, H; Jaunmuktane, Z; Mead, S; Ryan, NS; Schott, JM; ... Collinge, J; + view all (2024) Iatrogenic Alzheimer’s disease in recipients of cadaveric pituitary-derived growth hormone. Nature Medicine 10.1038/s41591-023-02729-2. (In press). Green open access
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Benilova, I; Reilly, M; Terry, C; Wenborn, A; Schmidt, C; Marinho, AT; Risse, E; ... Collinge, J; + view all (2020) Highly infectious prions are not directly neurotoxic. Proceeding of the National Academy of Sciences of the United States of America 10.1073/pnas.2007406117. (In press). Green open access
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Bonham, LW; Karch, CM; Fan, CC; Tan, C; Geier, EG; Wang, Y; Wen, N; ... International Genomics of Alzheimer’s Project (IGAP); + view all (2018) CXCR4 involvement in neurodegenerative diseases. Translational Psychiatry , 8 (1) , Article 73. 10.1038/s41398-017-0049-7. Green open access
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Bonham, LW; Steele, NZR; Karch, CM; Broce, I; Geier, EG; Wen, NL; Momeni, P; ... International FTD-Genomics Consortium (IFGC), .; + view all (2019) Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Scientific Reports , 9 , Article 10854. 10.1038/s41598-019-46415-1. Green open access
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Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; ... Sugrue, LP; + view all (2018) Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Medicine , 15 (1) , Article e1002487. 10.1371/journal.pmed.1002487. Green open access
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Brown, CA; Schmidt, C; Poulter, M; Hummerich, H; Klöhn, PC; Jat, P; Mead, S; ... Lloyd, SE; + view all (2014) In-vitro screen of prion disease susceptibility genes using the scrapie cell assay. Hum Mol Genet , 23 (19) pp. 5102-5108. 10.1093/hmg/ddu233. Green open access
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C Dabin, L; Guntoro, F; Campbell, T; Bélicard, T; Smith, AR; Smith, RG; Raybould, R; ... Viré, E; + view all (2020) Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt–Jakob disease. Acta Neuropathologica 10.1007/s00401-020-02224-9. (In press). Green open access
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Caine, D; Nihat, A; Crabb, P; Rudge, P; Cipolotti, L; Collinge, J; Mead, S; (2018) The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature. PLoS One , 13 (1) , Article e0190818. 10.1371/journal.pone.0190818. Green open access
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Caine, D; Tinelli, RJ; Hyare, H; De Vita, E; Lowe, J; Lukic, A; Thompson, A; ... Mead, S; + view all (2015) The cognitive profile of prion disease: a prospective clinical and imaging study. Ann Clin Transl Neurol , 2 (5) pp. 548-558. 10.1002/acn3.195. Green open access
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Canas, LS; Sudre, CH; De Vita, E; Nihat, A; Mok, TH; Slattery, CF; Paterson, RW; ... Modat, M; + view all (2019) Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process. NeuroImage: Clinical , Article 102051. 10.1016/j.nicl.2019.102051. (In press). Green open access
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Castro-Seoane, R; Hummerich, H; Sweeting, T; Tattum, MH; Linehan, JM; Fernandez de Marco, M; Brandner, S; ... Klöhn, PC; + view all (2012) Plasmacytoid dendritic cells sequester high prion titres at early stages of prion infection. PLoS Pathogens , 8 (2) , Article e1002538. 10.1371/journal.ppat.1002538. Green open access
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Chia, R; Tattum, MH; Jones, S; Collinge, J; Fisher, EMC; Jackson, GS; (2010) Superoxide Dismutase 1 and tgSOD1(G93A) Mouse Spinal Cord Seed Fibrils, Suggesting a Propagative Cell Death Mechanism in Amyotrophic Lateral Sclerosis. PLOS ONE , 5 (5) , Article e10627. 10.1371/journal.pone.0010627. Green open access
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Clayton, EL; Mancuso, R; Nielsen, TT; Mizielinska, S; Holmes, H; Powell, N; Norona, F; ... Isaacs, AM; + view all (2017) Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation. Human Molecular Genetics , 26 (5) pp. 873-887. 10.1093/hmg/ddx003. Green open access
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Clayton, EL; Milioto, C; Muralidharan, B; Norona, FE; Edgar, JR; Soriano, A; Jafar-Nejad, P; ... Isaacs, AM; + view all (2018) Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown. Brain , 141 (12) pp. 3428-3442. 10.1093/brain/awy284. Green open access
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Clayton, EL; Mizielinska, S; Edgar, JR; Nielsen, TT; Marshall, S; Norona, FE; Robbins, M; ... Isaacs, AM; + view all (2015) Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology. Acta Neuropathologica , 130 (4) pp. 511-523. 10.1007/s00401-015-1475-3. Green open access
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Collinge, J; Jaunmuktane, Z; Mead, S; Rudge, P; Brandner, S; (2016) Collinge et al. reply. [Rapid communication]. Nature , 537 E7-E9. 10.1038/nature19087. Green open access
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Collinge, J; Jaunmuktane, Z; Mead, S; Rudge, P; Brandner, S; (2016) Collinge et al. reply. [Rapid communication]. Nature , 535 E2-E3. 10.1038/nature18603. Green open access
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Collinge, J; Purro, SA; Nicoll, A; (2018) Prion Protein as a Toxic Acceptor of Amyloid-β Oligomers. Biological Psychiatry , 83 (4) pp. 358-368. 10.1016/j.biopsych.2017.11.020. Green open access
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Corbett, GT; Wang, Z; Hong, W; Colom-Cadena, M; Rose, J; Liao, M; Asfaw, A; ... Walsh, DM; + view all (2019) PrP is a central player in toxicity mediated by soluble aggregates of neurodegeneration-causing proteins. Acta Neuropathologica 10.1007/s00401-019-02114-9. (In press). Green open access
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Corbie, Rosie; Campbell, Tracy; Darwent, Lee; Rudge, Peter; Collinge, John; Mead, Simon; (2022) Estimation of the number of inherited prion disease mutation carriers in the UK. European Journal of Human Genetics 10.1038/s41431-022-01132-8. (In press). Green open access
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D'Castro, L; Wenborn, A; Gros, N; Joiner, S; Cronier, S; Collinge, J; Wadsworth, JDF; (2010) Isolation of Proteinase K-Sensitive Prions Using Pronase E and Phosphotungstic Acid. PLOS ONE , 5 (12) , Article e15679. 10.1371/journal.pone.0015679. Green open access
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De Vita, E; Ridgway, GR; White, MJ; Porter, MC; Caine, D; Rudge, P; Collinge, J; ... Hyare, H; + view all (2017) Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study. NeuroImage: Clinical , 13 pp. 89-96. 10.1016/j.nicl.2016.10.021. Green open access
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Eisenmenger, L; Porter, MC; Carswell, CJ; Thompson, A; Mead, S; Rudge, P; Collinge, J; ... Hyare, H; + view all (2016) Evolution of Diffusion-Weighted Magnetic Resonance Imaging Signal Abnormality in Sporadic Creutzfeldt-Jakob Disease, With Histopathological Correlation. JAMA Neurology , 73 (1) pp. 76-84. 10.1001/jamaneurol.2015.3159. Green open access
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Escott-Price, V; Bellenguez, C; Wang, LS; Choi, SH; Harold, D; Jones, L; Holmans, P; ... Cardiovascular Health Study (CHS); + view all (2014) Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One , 9 (6) , Article e94661. 10.1371/journal.pone.0094661. Green open access
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Ferrari, R; Wang, Y; Vandrovcova, J; Guelfi, S; Witeolar, A; Karch, CM; Schork, AJ; ... Desikan, RS; + view all (2017) Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases. Journal of Neurology, Neurosurgery and Psychiatry , 88 (2) pp. 152-164. 10.1136/jnnp-2016-314411. Green open access
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Ford, L; Rudge, P; Robinson, K; Collinge, J; Gorham, M; Mead, S; (2019) The most problematic symptoms of prion disease - an analysis of carer experiences. International Psychogeriatrics , 31 (8) pp. 1181-1190. 10.1017/S1041610218001588. Green open access
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Franko, E; Wehner, T; Joly, O; Lowe, J; Porter, MC; Kenny, J; Thompson, A; ... Mead, S; + view all (2016) Quantitative EEG parameters correlate with the progression of human prion diseases. Journal of Neurology, Neurosurgery & Psychiatry , 87 (10) pp. 1061-1067. 10.1136/jnnp-2016-313501. Green open access
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Fratta, P; Poulter, M; Lashley, T; Rohrer, JD; Polke, JM; Beck, J; Ryan, N; ... Mead, S; + view all (2013) Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathologica , 126 (3) pp. 401-409. 10.1007/s00401-013-1147-0. Green open access
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Freir, DB; Nicoll, AJ; Klyubin, I; Panico, S; Mc Donald, JM; Risse, E; Asante, EA; ... Collinge, J; + view all (2011) Interaction between prion protein and toxic amyloid beta assemblies can be therapeutically targeted at multiple sites. Nature Communications , 2 , Article 336. 10.1038/ncomms1341. Green open access
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Gao, Y; Wang, T; Yu, X; International FTD-Genomics Consortium (IFGC); Zhao, H; Zeng, P; (2020) Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis. Scientific Reports , 10 , Article 12184. 10.1038/s41598-020-68848-9. Green open access
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Ge, YJ; Ou, YN; Deng, YT; Wu, BS; Yang, L; Zhang, YR; Chen, SD; ... Sorbi, S; + view all (2023) Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood. Biological Psychiatry , 93 (9) pp. 770-779. 10.1016/j.biopsych.2022.11.002. Green open access
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Ghosh, U; Yau, W-M; Collinge, J; Tycko, R; (2021) Structural differences in amyloid-β fibrils from brains of non-demented elderly individuals and Alzheimer's disease patients. Proceedings of the National Academy of Sciences of the United States of America (PNAS) , 118 (45) , Article e2111863118. 10.1073/pnas.2111863118. Green open access
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Grizenkova, J; Akhtar, S; Brandner, S; Collinge, J; Lloyd, SE; (2014) Microglial Cx3cr1 knockout reduces prion disease incubation time in mice. BMC Neurosci , 15 , Article 44. 10.1186/1471-2202-15-44. Green open access
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Grizenkova, J; Akhtar, S; Collinge, J; Lloyd, SE; (2010) The Retinoic Acid Receptor Beta (Rarb) Region of Mmu14 Is Associated with Prion Disease Incubation Time in Mouse. PLOS ONE , 5 (12) , Article e15019. 10.1371/journal.pone.0015019. Green open access
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Guerreiro, RJ; Beck, J; Gibbs, JR; Santana, I; Rossor, MN; Schott, JM; Nalls, MA; ... Hardy, J; + view all (2010) Genetic Variability in CLU and Its Association with Alzheimer's Disease. PLOS ONE , 5 (3) , Article e9510. 10.1371/journal.pone.0009510. Green open access
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Hassan, A; Campbell, T; Darwent, L; Odd, H; Green, A; Collinge, J; Mead, S; (2021) Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease. BMC Neurology , 21 , Article 248. 10.1186/s12883-021-02274-w. Green open access
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Hosszu, LLP; Conners, R; Sangar, D; Batchelor, M; Sawyer, EB; Fisher, S; Cliff, MJ; ... Collinge, J; + view all (2020) Structural effects of the highly protective V127 polymorphism on human prion protein. Communications Biology , 3 (1) , Article 402. 10.1038/s42003-020-01126-6. Green open access
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Hu, NW; Nicoll, AJ; Zhang, D; Mably, AJ; O'Malley, T; Purro, SA; Terry, C; ... Rowan, MJ; + view all (2014) mGlu5 receptors and cellular prion protein mediate amyloid-β-facilitated synaptic long-term depression in vivo. Nature Communications , 5 , Article 3374. 10.1038/ncomms4374. Green open access
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Hyare, H; De Vita, E; Porter, M-C; Simpson, I; Ridgway, G; Lowe, J; Thompson, A; ... Thornton, JS; + view all (2020) Putaminal diffusion tensor imaging measures predict disease severity across human prion diseases. Brain Communications , 2 (1) , Article fcaa032. 10.1093/braincomms/fcaa032. Green open access
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Jackson, Graham S; Linehan, Jacqueline; Brandner, Sebastian; Asante, Emmanuel A; Wadsworth, Jonathan DF; Collinge, John; (2022) Overexpression of mouse prion protein in transgenic mice causes a non-transmissible spongiform encephalopathy. Scientific Reports , 12 , Article 17198. 10.1038/s41598-022-21608-3. Green open access
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Jesuthasan, Aaron; Sequeira, Danielle; Hyare, Harpreet; Odd, Hans; Rudge, Peter; Mok, Tze How; Nihat, Akin; ... Mead, Simon; + view all (2022) Assessing initial MRI reports for suspected CJD patients. Journal of Neurology 10.1007/s00415-022-11087-x. (In press). Green open access
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Joiner, S; Asante, EA; Linehan, JM; Brock, L; Brandner, S; Bellworthy, SJ; Simmons, MM; ... Wadsworth, JDF; + view all (2018) Experimental sheep BSE prions generate the vCJD phenotype when serially passaged in transgenic mice expressing human prion protein. Journal of the Neurological Sciences , 386 pp. 4-11. 10.1016/j.jns.2017.12.038. Green open access
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Jones, E; Hummerich, H; Viré, E; Uphill, J; Dimitriadis, A; Speedy, H; Campbell, T; ... Mead, S; + view all (2020) Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study. The Lancet Neurology , 19 (10) pp. 840-848. 10.1016/S1474-4422(20)30273-8. Green open access
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Jones, L; Holmans, PA; Hamshere, ML; Harold, D; Moskvina, V; Ivanov, D; Pocklington, A; ... Williams, J; + view all (2011) Correction: genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One , 6 (2) , Article e13950. 10.1371/journal.pone.0013950. Green open access
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Jones, L; Holmans, PA; Hamshere, ML; Harold, D; Moskvina, V; Ivanov, D; Pocklington, A; ... Williams, J; + view all (2010) Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease. PLOS ONE , 5 (11) , Article e13950. 10.1371/journal.pone.0013950. Green open access
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Katrak, S; Pauranik, A; Desai, S; Mead, S; Beck, J; Brandner, S; Collinge, J; (2019) Familial Creutzfeldt-Jakob disease in an Indian kindred. Annals of Indian Academy of Neurology , 22 (4) pp. 458-461. 10.4103/aian.AIAN_214_19. Green open access
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Kenny, J; Woollacott, I; Koriath, C; Hosszu, L; Adamson, G; Rudge, P; Rossor, MN; ... Mead, S; + view all (2017) A novel prion protein variant in a patient with semantic dementia. [Letter]. Journal of Neurology Neurosurgery and Psychiatry , 2017 (88) pp. 890-892. 10.1136/jnnp-2017-315577. Green open access
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Klyubin, I; Nicoll, AJ; Khalili-Shirazi, A; Farmer, M; Canning, S; Mably, A; Linehan, J; ... Collinge, J; + view all (2014) Peripheral Administration of a Humanized Anti-PrP Antibody Blocks Alzheimer's Disease Aβ Synaptotoxicity. J Neurosci , 34 (18) 6140 - 6145. 10.1523/JNEUROSCI.3526-13.2014. Green open access
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Koriath, C; (2018) Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Molecular Psychiatry 10.1038/s41380-018-0224-0. (In press). Green open access
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Koriath, C; Lashley, T; Taylor, W; Druyeh, R; Dimitriadis, A; Denning, N; Williams, J; ... Mead, S; + view all (2019) ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independent of amyloid-β copathology. Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring , 11 pp. 277-280. 10.1016/j.dadm.2019.01.010. Green open access
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Kotta, K; Paspaltsis, I; Bostantjopoulou, S; Latsoudis, H; Plaitakis, A; Kazis, D; Collinge, J; (2006) Novel mutation of the PRNP gene of a clinical CJD case. BMC Infectious Diseases , 6 , Article 169. 10.1186/1471-2334-6-169. Green open access
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Kunkle, BW; Grenier-Boley, B; Sims, R; Bis, JC; Damotte, V; Naj, AC; Boland, A; ... Pericak-Vance, MA; + view all (2019) Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics , 51 pp. 414-430. 10.1038/s41588-019-0358-2. Green open access
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L P Hosszu, Laszlo; Sangar, Daljit; Batchelor, Mark; Risse, Emmanuel; Hounslow, Andrea M; Collinge, John; Waltho, Jonathan P; (2023) Loss of residues 119 – 136, including the first β-strand of human prion protein, generates an aggregation-competent partially “open” form. Journal of Molecular Biology , Article 168158. 10.1016/j.jmb.2023.168158. (In press). Green open access
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Lauwers, E; Lalli, G; Brandner, S; Collinge, J; Compernolle, V; Duyckaerts, C; Edgren, G; ... De Strooper, B; + view all (2020) Potential human transmission of amyloid β pathology: surveillance and risks. The Lancet Neurology , 19 (10) pp. 872-878. 10.1016/S1474-4422(20)30238-6. Green open access
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Leonenko, G; Sims, R; Shoai, M; Frizzati, A; Bossu, P; Spalletta, G; Fox, NC; ... Munger, R; + view all (2019) Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of Clinical and Translational Neurology , 6 (3) pp. 456-465. 10.1002/acn3.716. Green open access
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Lloyd, SE; Maytham, EG; Pota, H; Grizenkova, J; Molou, E; Uphill, J; Hummerich, H; ... Collinge, J; + view all (2009) HECTD2 Is Associated with Susceptibility to Mouse and Human Prion Disease. PLOS GENET , 5 (2) , Article e1000383. 10.1371/journal.pgen.1000383. Green open access
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Lloyd, SE; Rossor, M; Fox, N; Mead, S; Collinge, J; (2009) HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q. BMC Medical Genetics , 10 , Article 90. 10.1186/1471-2350-10-90. Green open access
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Luk, C; Jones, S; Thomas, C; Fox, NC; Mok, TH; Mead, S; Collinge, J; (2016) Diagnosing Sporadic Creutzfeldt-Jakob Disease by the Detection of Abnormal Prion Protein in Patient Urine. JAMA Neurology , 73 (12) pp. 1454-1460. 10.1001/jamaneurol.2016.3733. Green open access
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Mahoney, CJ; Beck, J; Rohrer, JD; Lashley, T; Mok, K; Shakespeare, T; Yeatman, T; ... Warren, JD; + view all (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain , 135 (3) 736 - 750. 10.1093/brain/awr361. Green open access
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Majounie, E; Renton, AE; Mok, K; Dopper, EG; Waite, A; Rollinson, S; Chiò, A; ... Traynor, BJ; + view all (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology , 11 (4) 323 - 330. 10.1016/S1474-4422(12)70043-1. Green open access
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Manka, Szymon W; Wenborn, Adam; Collinge, John; Wadsworth, Jonathan DF; (2022) Prion strains viewed through the lens of cryo-EM. Cell and Tissue Research 10.1007/s00441-022-03676-z. (In press). Green open access
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Manka, Szymon W; Zhang, Wenjuan; Wenborn, Adam; Betts, Jemma; Joiner, Susan; Saibil, Helen R; Collinge, John; (2022) 2.7 Å cryo-EM structure of ex vivo RML prion fibrils. Nat Commun , 13 , Article 4004. 10.1038/s41467-022-30457-7. Green open access
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Marbiah, MM; Harvey, A; West, BT; Louzolo, A; Banerjee, P; Alden, J; Grigoriadis, A; ... Klöhn, PC; + view all (2014) Identification of a gene regulatory network associated with prion replication. The EMBO Journal , 33 (14) 1503- 1614. 10.15252/embj.201387150. Green open access
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McKinnon, C; Goold, R; Andre, R; Devoy, A; Ortega, Z; Moonga, J; Linehan, JM; ... Tabrizi, SJ; + view all (2016) Prion-mediated neurodegeneration is associated with early impairment of the ubiquitin-proteasome system. Acta Neuropathologica , 131 (3) pp. 411-425. 10.1007/s00401-015-1508-y. Green open access
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McNaughton, D; Knight, W; Guerreiro, R; Ryan, N; Lowe, J; Poulter, M; Nicholl, DJ; ... Mead, S; + view all (2012) Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobioly of Aging , 33 (2) 426.e13 - 426.e21. 10.1016/j.neurobiolaging.2010.10.010. Green open access
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McNiven, K; Nihat, A; Mok, TH; Tesfamichael, S; O’Donnell, V; Rudge, P; Collinge, J; (2019) Enteral feeding is associated with longer survival in the advanced stages of prion disease. Brain Communications , 1 (1) , Article fcz012. 10.1093/braincomms/fcz012. Green open access
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Mead, S; Khalili-Shirazi, A; Potter, C; Mok, T; Nihat, A; Hyare, H; Canning, S; ... Collinge, J; + view all (2022) Prion protein monoclonal antibody (PRN100) therapy for Creutzfeldt–Jakob disease: evaluation of a first-in-human treatment programme. The Lancet Neurology , 21 (4) pp. 342-354. 10.1016/S1474-4422(22)00082-5. Green open access
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Mead, S; Burnell, M; Lowe, J; Thompson, A; Lukic, A; Porter, MC; Carswell, C; ... Collinge, J; + view all (2016) Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease. JAMA Neurology , 73 (4) pp. 447-455. 10.1001/jamaneurol.2015.4885. Green open access
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Mead, S; Gandhi, S; Beck, J; Caine, D; Gallujipali, D; Carswell, C; Hyare, H; ... Collinge, J; + view all (2013) A Novel Prion Disease Presenting with Diarrhea and Autonomic Neuropathy. New England Journal of Medicine , 369 (20) 1904- 1914. 10.1056/NEJMoa1214747. Green open access
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Mead, S; Lloyd, S; Collinge, J; (2019) Genetic Factors in Mammalian Prion Diseases. Annual Review of Genetics , 53 , Article 21. 10.1146/annurev-genet-120213-092352. (In press).

Mengel, D; Mok, TH; Nihat, A; Liu, W; Rissman, RA; Galasko, D; Zetterberg, H; ... Walsh, DM; + view all (2021) NT1-Tau Is Increased in CSF and Plasma of CJD Patients, and Correlates with Disease Progression. Cells , 10 (12) , Article 3514. 10.3390/cells10123514. Green open access
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Mengel, D; Hong, W; Corbett, GT; Liu, W; DeSousa, A; Solforosi, L; Fang, C; ... Walsh, DM; + view all (2019) PrP-grafted antibodies bind certain amyloid β-protein aggregates, but do not prevent toxicity. Brain Research , 1710 pp. 125-135. 10.1016/j.brainres.2018.12.038. Green open access
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Mirabile, I; Jat, PS; Brandner, S; Collinge, J; (2015) Identification of clinical target areas in the brainstem of prion-infected mice. Neuropathology and Applied Neurobiology , 41 (5) pp. 613-630. 10.1111/nan.12189. Green open access
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Mok, Tze How; Nihat, Akin; Majbour, Nour; Sequeira, Danielle; Holm-Mercer, Leah; Coysh, Thomas; Darwent, Lee; ... Mead, Simon; + view all (2023) Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease. Brain , Article awad101. 10.1093/brain/awad101. Green open access
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Mok, T; Jaunmuktane, Z; Joiner, S; Campbell, T; Morgan, C; Wakerley, B; Golestani, F; ... Collinge, J; + view all (2017) Variant Creutzfeldt-Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129. The New England Journal of Medicine , 376 (3) pp. 292-294. 10.1056/NEJMc1610003. Green open access
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Mok, TH; Koriath, C; Jaunmuktane, Z; Campbell, T; Joiner, S; Wadsworth, JDF; Hosszu, LLP; ... Mead, S; + view all (2018) Evaluating the causality of novel sequence variants in the prion protein gene by example. Neurobiology of Aging , 71 265.e1-265.e7. 10.1016/j.neurobiolaging.2018.05.011. Green open access
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Mok, TH; Nihat, A; Luk, C; Sequeira, D; Batchelor, M; Mead, S; Collinge, J; (2021) Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases. Scientific Reports , 11 (1) , Article 5231. 10.1038/s41598-021-84527-9. Green open access
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Mole, J; Mead, S; Rudge, P; Nihat, A; Mok, T; Collinge, J; Caine, D; (2021) Cognitive decline heralds onset of symptomatic inherited prion disease. Brain , 144 (3) pp. 989-998. 10.1093/brain/awaa409. Green open access
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Nahass, GR; Sun, Y; Xu, Y; Batchelor, M; Reilly, M; Benilova, I; Kedia, N; ... Bieschke, J; + view all (2021) Brazilin Removes Toxic Alpha-Synuclein and Seeding Competent Assemblies from Parkinson Brain by Altering Conformational Equilibrium. Journal of Molecular Biology , 433 (8) , Article 166878. 10.1016/j.jmb.2021.166878. Green open access
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Nicoll, AJ; Panico, S; Freir, DB; Wright, D; Terry, C; Risse, E; Herron, CE; ... Collinge, J; + view all (2013) Amyloid-β nanotubes are associated with prion protein-dependent synaptotoxicity. Nature Communications , 4 , Article 2416 . 10.1038/ncomms3416. Green open access
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Nihat, A; Mok, TH; Odd, H; Thompson, AGB; Caine, D; McNiven, K; O'Donnell, V; ... Mead, S; + view all (2022) Development of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2021-327722. (In press). Green open access
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Norsworthy, PJ; Thompson, AGB; Mok, TH; Guntoro, F; Dabin, LC; Nihat, A; Paterson, RW; ... Viré, EA; + view all (2020) A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis. Nature Communications , 11 (1) , Article 3960. 10.1038/s41467-020-17655-x. Green open access
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Owen, J; Beck, J; Campbell, T; Adamson, G; Gorham, M; Thompson, A; Smithson, S; ... Mead, S; + view all (2014) Predictive testing for inherited prion disease: report of 22 years experience. European Journal of Human Genetics , 22 (12) pp. 1351-1356. 10.1038/ejhg.2014.42. Green open access
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Peloso, GM; van der Lee, SJ; Sims, R; van der Lee, SJ; Naj, AC; Bellenguez, C; Badarinarayan, N; ... Crane, PK; + view all (2018) Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease. Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring , 10 pp. 595-598. 10.1016/j.dadm.2018.08.008. Green open access
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Properzi, F; Badhan, A; Klier, S; Schmidt, C; Klohn, PC; Wadsworth, JDF; Clarke, AR; ... Collinge, J; + view all (2016) Physical, chemical and kinetic factors affecting prion infectivity. Prion , 10 (3) pp. 251-261. 10.1080/19336896.2016.1181250. Green open access
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Purro, SA; Farrow, MA; Linehan, J; Nazari, T; Thomas, DX; Chen, Z; Mengel, D; ... Collinge, J; + view all (2018) Transmission of amyloid-β protein pathology from cadaveric pituitary growth hormone. Nature , 564 (7736) pp. 415-419. 10.1038/s41586-018-0790-y. Green open access
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Qiang, W; Yau, W-M; Lu, J-X; Collinge, J; Tycko, R; (2017) Structural variation in amyloid-β fibrils from Alzheimer's disease clinical subtypes. Nature , 541 (7636) pp. 217-221. 10.1038/nature20814. Green open access
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Quinn, L; Whitfield, J; Alpers, MP; Campbell, T; Hummerich, H; Pomat, W; Siba, P; ... Mead, S; + view all (2024) Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic. American Journal of Human Genetics , 111 (4) pp. 668-679. 10.1016/j.ajhg.2024.02.011. Green open access
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Reilly, Madeleine; Benilova, Iryna; Khalili-Shirazi, Azadeh; Schmidt, Christian; Ahmed, Parvin; Yip, Daniel; Jat, Parmjit S; (2022) A high-content neuron imaging assay demonstrates inhibition of prion disease-associated neurotoxicity by an anti-prion protein antibody. Scientific Reports , 12 , Article 9493. 10.1038/s41598-022-13455-z. Green open access
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Reus, LM; Pasaniuc, B; Posthuma, D; Boltz, T; Pijnenburg, YAL; Ophoff, RA; (2021) Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes. Biological Psychiatry , 89 (8) pp. 825-835. 10.1016/j.biopsych.2020.12.023. Green open access
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Risse, E; Nicoll, AJ; Taylor, WA; Wright, D; Badoni, M; Yang, X; Farrow, MA; (2015) Identification of a Compound That Disrupts Binding of Amyloid-β to the Prion Protein Using a Novel Fluorescence-based Assay. Journal of Biological Chemistry , 290 (27) pp. 17020-17028. 10.1074/jbc.M115.637124. Green open access
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Roos, P; Johannsen, P; Lindquist, SG; Brown, JM; Waldemar, G; Duno, M; Nielsen, TT; ... Nielsen, JE; + view all (2022) Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival. Acta Neurologica Scandinavica , 145 (5) pp. 529-540. 10.1111/ane.13578. Green open access
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Rossi, M; Mead, S; Collinge, J; Rudge, P; Vincent, A; (2015) Neuronal antibodies in patients with suspected or confirmed sporadic Creutzfeldt-Jakob Disease. Journal of Neurology, Neurosurgery, and Psychiatry , 86 (6) pp. 692-694. 10.1136/jnnp-2014-308695. Green open access
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Rostgaard, N; Roos, P; Budtz-Jorgensen, E; Johannsen, P; Waldemar, G; Norremolle, A; Lindquist, SG; ... Nielsen, JE; + view all (2017) TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiology of Aging , 59 221.e1-221.e7. 10.1016/j.neurobiolaging.2017.06.026. Green open access
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Rudge, P; Hyare, H; Green, A; Collinge, J; Mead, S; (2018) Imaging and CSF analyses effectively distinguish CJD from its mimics. Journal of Neurology, Neurosurgery, and Psychiatry , 89 (5) pp. 461-466. 10.1136/jnnp-2017-316853. Green open access
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Rudge, P; Jaunmuktane, Z; Adlard, P; Bjurstrom, N; Caine, D; Lowe, J; Norsworthy, P; ... Collinge, J; + view all (2015) Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years. Brain , 138 (Pt 11) pp. 3386-3399. 10.1093/brain/awv235. Green open access
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Rudge, P; Jaunmuktane, Z; Hyare, H; Ellis, M; Koltzenburg, M; Collinge, J; Brandner, S; (2019) Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. Brain 10.1093/brain/awy358. (In press). Green open access
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Sandberg, MK; Al-Doujaily, H; Sharps, B; De Oliveira, MW; Schmidt, C; Richard-Londt, A; Lyall, S; ... Collinge, J; + view all (2014) Prion neuropathology follows the accumulation of alternate prion protein isoforms after infective titre has peaked. Nat Commun , 5 , Article 4347. 10.1038/ncomms5347. Green open access
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Sarell, CJ; Quarterman, E; Yip, DC-M; Terry, C; Nicoll, AJ; Wadsworth, JDF; Farrow, MA; ... Collinge, J; + view all (2017) Soluble A beta aggregates can inhibit prion propagation. Open Biology , 7 (11) , Article 170158. 10.1098/rsob.170158. Green open access
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Sarell, CJ; Quarterman, E; Yip, DC-M; Terry, C; Nicoll, AJ; Wadsworth, JDF; Farrow, MA; ... Collinge, J; + view all (2017) Soluble Aβ aggregates can inhibit prion propagation. Open Biology , 7 (11) , Article 170158. 10.1098/rsob.170158. Green open access
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Sawyer, EB; Edgeworth, JA; Thomas, C; Collinge, J; Jackson, GS; (2015) Preclinical detection of infectivity and disease-specific PrP in blood throughout the incubation period of prion disease. Scientific Reports , 5 , Article 17742. 10.1038/srep17742. Green open access
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Schmidt, C; Fizet, J; Properzi, F; Batchelor, M; Sandberg, MK; Edgeworth, JA; Afran, L; ... Collinge, J; + view all (2015) A systematic investigation of production of synthetic prions from recombinant prion protein. Open Biology , 5 (12) , Article 150165. 10.1098/rsob.150165. Green open access
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Schott, JM; Crutch, SJ; Carrasquillo, MM; Uphill, J; Shakespeare, TJ; Ryan, NS; Yong, KX; ... Mead, S; + view all (2016) Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 10.1016/j.jalz.2016.01.010. Green open access
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Sequeira, Danielle; Nihat, Akin; Mok, Tzehow; Coysh, Thomas; Rudge, Peter; Collinge, John; Mead, Simon; (2022) Prevalence and Treatments of Movement Disorders in Prion Diseases: A Longitudinal Cohort Study. Movement Disorders 10.1002/mds.29152. (In press). Green open access
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Sims, R; van der Lee, SJ; Naj, AC; Bellenguez, C; Badarinarayan, N; Jakobsdottir, J; Kunkle, BW; ... Schellenberg, GD; + view all (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics , 49 pp. 1373-1384. 10.1038/ng.3916. Green open access
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Smethurst, P; Risse, E; Tyzack, GE; Mitchell, JS; Taha, DM; Chen, Y-R; Newcombe, J; ... Patani, R; + view all (2020) Distinct responses of neurons and astrocytes to TDP-43 proteinopathy in amyotrophic lateral sclerosis. Brain , 143 (2) pp. 430-440. 10.1093/brain/awz419. Green open access
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Swarup, V; Hinz, FI; Rexach, JE; Noguchi, K-I; Toyoshiba, H; Oda, A; Hirai, K; ... Geschwind, DH; + view all (2019) Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. Nature Medicine , 25 (1) pp. 152-164. 10.1038/s41591-018-0223-3. Green open access
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Taskesen, E; Mishra, A; Van Der Sluis, S; Ferrari, R; Veldink, JH; Van Es, MA; Smit, AB; ... Pijnenburg, Y; + view all (2017) Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS. Scientific Reports , 7 , Article 8899. 10.1038/s41598-017-09320-z. Green open access
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Tattum, MH; Jones, S; Pal, S; Collinge, J; Jackson, GS; (2010) Discrimination between prion-infected and normal blood samples by protein misfolding cyclic amplification. Transfusion , 50 (5) 996 - 1002. 10.1111/j.1537-2995.2010.02595.x. Green open access
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Tattum, MH; Jones, S; Pal, S; Khalili-Shirazi, A; Collinge, J; Jackson, GS; (2010) A highly sensitive immunoassay for the detection of prion-infected material in whole human blood without the use of proteinase K. Transfusion , 50 (12) 2619 - 2627. 10.1111/j.1537-2995.2010.02731.x. Green open access
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Terry, C; Harniman, RL; Sells, J; Wenborn, A; Joiner, S; Saibil, HR; Miles, MJ; ... Wadsworth, JDF; + view all (2019) Structural features distinguishing infectious ex vivo mammalian prions from non-infectious fibrillar assemblies generated in vitro. Scientific Reports , 9 , Article 376. 10.1038/s41598-018-36700-w. Green open access
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Terry, C; Wenborn, A; Gros, N; Sells, J; Joiner, S; Hosszu, LL; Tattum, MH; ... Wadsworth, JD; + view all (2016) Ex vivo mammalian prions are formed of paired double helical prion protein fibrils. Open Biology , 6 (5) 10.1098/rsob.160035. Green open access
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Thomas, DX; Bajaj, S; McRae-McKee, K; Hadjichrysanthou, C; Anderson, RM; Collinge, J; (2020) Association ofTDP‑43 proteinopathy, cerebral amyloid angiopathy, and Lewy bodies with cognitive impairment in individuals with or withoutAlzheimer’s disease neuropathology. Scientific Reports , 10 (1) , Article 14579. 10.1038/s41598-020-71305-2. Green open access
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Thompson, AG; Uphill, J; Lowe, J; Porter, MC; Lukic, A; Carswell, C; Rudge, P; ... Mead, S; + view all (2015) Genome-wide association study of behavioural and psychiatric features in human prion disease. Transl Psychiatry , 5 , Article e552. 10.1038/tp.2015.42. Green open access
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Thompson, AGB; Anastasiadis, P; Druyeh, R; Whitworth, I; Nayak, A; Nihat, A; Mok, TH; ... Mead, S; + view all (2021) Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases. Molecular Psychiatry 10.1038/s41380-021-01045-w. (In press). Green open access
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Thompson, AGB; Luk, C; Heslegrave, AJ; Zetterberg, H; Mead, SH; Collinge, J; Jackson, GS; (2018) Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression. Journal of Neurology, Neurosurgery & Psychiatry , 89 (9) pp. 955-961. 10.1136/jnnp-2017-317793. Green open access
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Trevitt, CR; Hosszu, LL; Batchelor, M; Panico, S; Terry, C; Nicoll, AJ; Risse, E; ... Clarke, AR; + view all (2014) N-terminal domain of prion protein directs its oligomeric association. J Biol Chem , 289 (37) 25497 - 25508. 10.1074/jbc.M114.566588. Green open access
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van der Lee, SJ; Conway, OJ; Jansen, I; Carrasquillo, MM; Kleineidam, L; van den Akker, E; Hernández, I; ... Holstege, H; + view all (2020) Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. [Corrigendum]. Acta Neuropathologica 10.1007/s00401-019-02107-8. (In press). Green open access
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Wadsworth, JDF; Adamson, G; Joiner, S; Brock, L; Powell, C; Linehan, JM; Beck, JA; ... Collinge, J; + view all (2017) Methods for Molecular Diagnosis of Human Prion Disease. Methods in Molecular Biology: Prions , 1658 pp. 311-346. 10.1007/978-1-4939-7244-9_22. Green open access
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Wadsworth, JDF; Joiner, S; Linehan, JM; Jack, K; Al-Doujaily, H; Costa, H; Ingold, T; ... Collinge, J; + view all (2021) Humanised transgenic mice are resistant to chronic wasting disease prions from Norwegian reindeer and moose. The Journal of Infectious Diseases 10.1093/infdis/jiab033. (In press). Green open access
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Wenborn, A; Terry, C; Gros, N; Joiner, S; D'Castro, L; Panico, S; Sells, J; ... Wadsworth, JD; + view all (2015) A novel and rapid method for obtaining high titre intact prion strains from mammalian brain. Scientific Reports , 5 , Article 10062. 10.1038/srep10062. Green open access
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Whitfield, JT; Pako, WH; Collinge, J; Alpers, MP; (2017) Cultural factors that affected the spatial and temporal epidemiology of kuru. ROYAL SOCIETY OPEN SCIENCE , 4 , Article 160789. 10.1098/rsos.160789. Green open access
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Zhang, D; Qi, Y; Klyubin, I; Ondrejcak, T; Sarell, CJ; Cuello, AC; Collinge, J; (2017) Targeting glutamatergic and cellular prion protein mechanisms of amyloid β-mediated persistent synaptic plasticity disruption: longitudinal studies. Neuropharmacology , 121 pp. 231-246. 10.1016/j.neuropharm.2017.03.036. Green open access
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Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; Sato, C; ... International FTD-Genomics Consortium (IFGC), .; + view all (2018) A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain , 141 (10) pp. 2895-2907. 10.1093/brain/awy238. Green open access
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Thesis

Begum, R; (2013) Functional analysis of Hectd2: a prion disease modifier associated with incubation time. Doctoral thesis , UCL (University College London). Green open access
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Reilly, Madeleine Louise; (2019) Development of an in vitro assay of prion-induced neurotoxicity. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Thomas, David Mark Xavier; (2019) Investigating the biochemical signature and in vivo seeding activity of amyloid-β from distinct Alzheimer’s Disease subtypes. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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This list was generated on Tue Jan 27 13:37:17 2026 GMT.