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Number of items: 36.

Article

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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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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Bettencourt, C; Foti, SC; Miki, Y; Botia, J; Chatterjee, A; Warner, TT; Revesz, T; ... Holton, JL; + view all (2020) White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. Acta Neuropathologica , 139 pp. 135-156. 10.1007/s00401-019-02074-0. Green open access
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Bettencourt, C; Piras, IS; Foti, SC; Talboom, J; Miki, Y; Lashley, T; Balazs, R; ... Holton, JL; + view all (2020) Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis. Acta Neuropathologica Communications , 8 , Article 71. 10.1186/s40478-020-00946-1. 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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Cerofolini, L; Ravera, E; Bologna, S; Wiglenda, T; Böddrich, A; Purfürst, B; Benilova, I; ... Luchinat, C; + view all (2020) Mixing Aβ(1–40) and Aβ(1–42) peptides generates unique amyloid fibrils. Chemical Communications 10.1039/d0cc02463e. (In press). Green open access
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De Bruijn, SE; Fiorentino, A; Ottaviani, D; Fanucchi, S; Melo, US; Corral-Serrano, JC; Mulders, T; ... Hardcastle, AJ; + view all (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics 10.1016/j.ajhg.2020.09.002. (In press). Green open access
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Dylewski, JF; Wilson, N; Lu, S; Jat, P; Weiser-Evans, M; Panzer, SE; Blaine, J; (2020) Isolation, purification, and conditional immortalization of murine glomerular endothelial cells of microvascular phenotype. MethodsX , 7 , Article 101048. 10.1016/j.mex.2020.101048. Green open access
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Fassad, MR; Shoman, WI; Morsy, H; Patel, MP; Radwan, N; Jenkins, L; Cullup, T; ... Fasseeh, N; + view all (2020) Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clinical Genetics , 97 (3) pp. 509-515. 10.1111/cge.13661. 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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Gill, ON; Spencer, Y; Richard-Loendt, A; Kelly, C; Brown, D; Sinka, K; Andrews, N; ... Brandner, S; + view all (2020) Prevalence in Britain of abnormal prion protein in human appendices before and after exposure to the cattle BSE epizootic. Acta Neuropathologica 10.1007/s00401-020-02153-7. (In press). Green open access
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Heller, C; Foiani, MS; Moore, K; Convery, R; Bocchetta, M; Neason, M; Cash, DM; ... GENFI; + view all (2020) Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2019-321954. (In press). 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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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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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, E; Mead, S; (2020) Genetic risk factors for Creutzfeldt-Jakob disease. Neurobiology of Disease , 142 , Article 104973. 10.1016/j.nbd.2020.104973. 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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Manka, SW; Brew, K; (2020) Thermodynamic and Mechanistic Insights into Coupled Binding and Unwinding of Collagen by Matrix Metalloproteinase 1. Journal of Molecular Biology , 432 (22) pp. 5985-5993. 10.1016/j.jmb.2020.10.003. Green open access
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Manka, SW; Moores, CA; (2020) Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation. EMBO Reports , Article e51534. 10.15252/embr.202051534. Green open access
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Mead, S; (2020) Marked abnormalities of plasma protein biomarkers in Creutzfeldt-Jakob disease (CJD). Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2020-324307. (In press). Green open access
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Mok, TH; Mead, S; (2020) Preclinical biomarkers of prion infection and neurodegeneration. Current Opinion in Neurobiology , 61 pp. 82-88. 10.1016/j.conb.2020.01.009. Green open access
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Moore, K; Convery, R; Bocchetta, M; Neason, M; Cash, DM; Greaves, C; Russell, LL; ... Anderl-Straub, S; + view all (2020) A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort. Applied Neuropsychology: Adult 10.1080/23279095.2020.1716357. (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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O'Connor, A; Karikari, TK; Poole, T; Ashton, NJ; Rodriguez, JL; Khatun, A; Swift, I; ... Fox, NC; + view all (2020) Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study. Molecular Psychiatry 10.1038/s41380-020-0838-x. (In press). Green open access
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Orme, T; Hernandez, D; Ross, OA; Kun-Rodrigues, C; Darwent, L; Shepherd, CE; Parkkinen, L; ... Bras, J; + view all (2020) Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications , 8 (1) , Article 5. 10.1186/s40478-020-0879-z. Green open access
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Robson, EA; Dixon, L; Causon, L; Dawes, W; Benenati, M; Fassad, M; Hirst, RA; ... O'Callaghan, C; + view all (2020) Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation. Neurology: Genetics , 6 (4) , Article e482. 10.1212/NXG.0000000000000482. Green open access
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Russell, LL; Greaves, CV; Bocchetta, M; Nicholas, J; Convery, RS; Moore, K; Cash, DM; ... Anderl-Straub, S; + view all (2020) Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex 10.1016/j.cortex.2020.08.023. (In press). Green open access
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Sampson, EL; Anderson, J; Candy, B; Davies, N; Ellis-Smith, C; Gola, A; Harding, R; ... Evans, CJ; + view all (2020) Empowering Better End‐of‐Life Dementia Care (EMBED‐Care): A mixed methods protocol to achieve integrated person‐centred care across settings. International Journal of Geriatric Psychiatry 10.1002/gps.5251. (In press). Green open access
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Shoemark, A; Pinto, AL; Patel, MP; Daudvohra, F; Hogg, C; Mitchison, HM; Burgoyne, T; (2020) PCD Detect: enhancing ciliary features through image averaging and classification. American Journal of Physiology: Lung Cellular and Molecular Physiology , 319 (6) L1048-L1060. 10.1152/ajplung.00264.2020. 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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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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Tsvetanov, KA; Gazzina, S; Jones, PS; van Swieten, J; Borroni, B; Sanchez-Valle, R; Moreno, F; ... Genetic FTD Initiative, GENFI; + view all (2020) Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia. Alzheimer's & Dementia 10.1002/alz.12209. 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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Verzini, Silvia; Shah, Maliha; Theillet, Francois-Xavier; Belsom, Adam; Bieschke, Jan; Wanker, Erich E; Rappsilber, Juri; ... Selenko, Philipp; + view all (2020) Megadalton-sized Dityrosine Aggregates of α-Synuclein Retain High Degrees of Structural Disorder and Internal Dynamics. Journal of Molecular Biology (JMB) , 432 (24) , Article 166689. 10.1016/j.jmb.2020.10.023. Green open access
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Working / discussion paper

Mole, J; Mead, S; Rudge, P; Nihat, A; Tzehow, M; Collinge, J; Caine, D; (2020) Cognitive decline heralds onset of symptomatic inherited prion disease. MedRxiv: Cold Spring Harbor, NY, USA. Green open access
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Thesis

Koriath, Carolin Anna Maria; (2020) Next‐generation sequencing in the diagnosis of Dementia and Huntington’s disease Phenocopy Syndromes. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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This list was generated on Mon Jun 16 00:37:55 2025 BST.