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MRC Prion Unit
From fundamental research to prevention and cure
.

Prion kinetics, toxicity and synthesis and its wider relevance

Prions are lethal pathogens of mammals which occur in multiple biological strains, and yet appear devoid of nucleic acid and composed of aggregated conformational isomers of a host-encoded glycoprotein. Their unique biology, allied with the risks to public health posed by prion zoonoses such as BSE, has focused much attention on understanding the molecular basis of prion propagation and pathogenesis. However, it is clear that the underlying molecular mechanisms, involving aggregation of a misfolded host protein, are of much wider significance and, indeed, analogous protein-based inheritance mechanisms are recognised in yeast and fungi. 

Recent advances at the Unit1-4 and elsewhere suggest that prions themselves are not directly neurotoxic, but rather their propagation involves production of toxic species which may be uncoupled from infectivity. We have proposed a general model5 to encompass these phenomena, centering on the kinetics of prion propagation, and are testing this model using various experimental systems.

This programme aims to characterise the kinetics of prion propagation and understand its relationship to prion strains, transmission barriers, the onset of neurological disease and clinically silent carrier states. In particular, extensive efforts are underway to attempt production of high-titre prions and neurotoxic species from recombinant prion protein for subsequent structural analysis in the Unit.

In addition, this programme works on the development of cell-based prion bioassays for both rodent and human prion strains, following the original development of the scrapie cell assay at the Unit6. Assay of the principal experimental prion strain used in the Unit, RML, has been successfully automated allowing much faster and higher throughput prion bioassay which is in use across many Unit programmes and has resulted in a major decrease in the use of laboratory animals in our research.

 

Automated cell culture-based prion bioassay

Automated, cell culture-based prion bioassay replaces the use of laboratory animals in research

Studies originally funded by the Department of Health to develop effective prion decontamination of surgical and medical instruments7 led both to the development of an effective product, now available to hospital and dental practice, and to new bioassays which exploit the avid binding of prions to metal surfaces8.

While the studies planned under this programme are central to the core mission of the Unit in understanding prion propagation, we consider that the fundamental principles we are exploring may have much wider significance with respect to other diseases that involve accumulation of aggregates of misfolded host protein and in which seeded polymerisation and production of oligomeric toxic species may well to relevant to pathogenesis, spread of pathology, and the identification of specific or generic therapeutic strategies. Such conditions include all the common neurodegenerative diseases, and comprise the principal causes of dementia.


Reviews:

Mammalian prions and their wider relevance in neurodegenerative diseases
Collinge J. Nature. 2016 Nov 10; 539(7628):217-226. doi: 10.1038/nature20415.

Exosome release from infected dendritic cells: A clue for a fast spread of prions in the periphery
Kloehn PC, Castro-Seoane R, Collinge J.  J Infect 2013; 67: 359-368.

Genetics of prion diseases
Lloyd SE, Mead S, Collinge J. Curr Opin Genet Dev 2013; 23: 345-51.

Developing early diagnostics for prion diseases
Jackson GS, Mead S, Collinge J.  Neurodegener Dis Manag 2013; 3: 53-60.

The Regiment and medical research: the BSE crisis, UK public health and cannibalism in Papua New Guinea
Whitfield J, Collinge J. Mars & Minerva 2012; 12: 3.

The risk of prion zoonoses
Collinge J.Science 2012; 335: 411-3.

Molecular pathology of human prion disease
Wadsworth JDF, Collinge J. Acta Neuropathol 2011; 121: 69-77.

Genetics of prion disease
Lloyd S, Mead S, Collinge J.  Top Curr Chem 2011; 305: 1-22.

Prion strain mutation and selection
Collinge J. Science 2010; 328: 1111-2.

Contribution of transgenic models to understanding human prion disease
Wadsworth JDF, Asante EA, Collinge J.  Neuropathol App Nerobiol 2010; 36: 576-97.

Preventing prion pathogenicity by targeting the cellular prion protein
Nicoll AJ, Collinge J. Infect Disord Drug Targets 2009; 9: 48-57.

The role of CHMP2B in frontotemporal dementia
Urwin H, Ghazi-Noori S, Collinge J, Isaacs A.  Biochem Soc Trans 2009; 37: 208-12.


Peer reviewed articles:
2017

Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Clayton EL, Mancuso R, Nielsen TT, Mizielinska S, Holmes H, Powell N, Norona F, Larsen JO, Milioto C, Wilson KM, Lythgoe MF, Ourselin S, Nielsen JE, Johannsen P, Holm I, Collinge J; FReJA., Oliver PL, Gomez-Nicola D, Isaacs AM. Hum Mol Genet. 2017 Jan 16. doi: 10.1093/hmg/ddx003. [Epub ahead of print]

Cultural factors that affected the spatial and temporal epidemiology of kuru.
Whitfield J. T., Pako, W. H., Collinge, J. & Alpers, M. P. (2017) R Soc open sci.
DOI:

Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study.
De Vita E, Ridgway GR, White MJ, Porter MC, Caine D, Rudge P, Collinge J, Yousry TA, Jager HR, Mead S, Thornton JS, Hyare H.  Neuroimage Clin. 2016 Nov 2;13:89-96. eCollection 2017.


2016

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC); International Parkinson's Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer's Project (IGAP),, Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. . J Neurol Neurosurg Psychiatry. 2017 Feb; 88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29.

Pathologically confirmed variant CJD in a prion protein gene codon 129 heterozygous patient.
Tze How Mok, Zane Jaunmuktane, Susan Joiner, Tracy Campbell, Catherine Morgan, Benjamin Wakerley, Farhad Golestani, Peter Rudge, Simon Mead, Hans Rolf Jäger,  Jonathan D F Wadsworth, Sebastian Brandner, John Collinge  NEJM In Press Nov 2016

Structural Variation in Amyloid-β Fibrils from Alzheimer's Disease Clinical Subtypes 
Qiang W, Yau W-M, Lu J-X, Collinge J & Tycko R. Nature. Nov 2016 in press doi:10.1038/nature20814

Diagnosing Sporadic Creutzfeldt-Jakob Disease by the Detection of Abnormal Prion Protein in Patient Urine.
Luk C, Jones S, Thomas C, Fox NC, Mok TH, Mead S, Collinge J, Jackson GS  JAMA Neurol. 2016; 3. doi: 10.1001/jamaneurol.2016.3733. [Epub ahead of print]

Collinge et al. reply
Collinge J, Jaunmuktane Z, Mead S, Rudge P, Brandner S.   Nature 2016;535(7611):E2-3.

Quantitative EEG parameters correlate with the progression of human prion diseases.
Franko E, Wehner T, Joly O, Lowe J, Porter MC, Kenny J, Thompson A, Rudge P, Collinge J, Mead S.   J Neurol Neurosurg Psychiatry 2016; 313501; doi:10.1136/jnnp-2016-313501

Physical, chemical and kinetic factors affecting prion infectivity. 
Properzi F, Badhan A, Klier S, Schmidt C, Klöhn PC, Wadsworth JDF, Clarke AR, Jackson GS, Collinge J.  Prion 2016; doi: 10.1080/19336896.2016.1181250

Ex vivo mammalian prions are formed of paired double helical prion protein fibrils.  
Terry
C, Wenborn A, Gros N, Sells J, Joiner S, Hosszu LLP, Tattum H, Panico S,  Clare DK, Collinge J, Saibil HR, Wadsworth JDF. Open Biol. 2016: 160035; http://dx.doi.org/10.1098/rsob.160035

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study. 
Balendra R, Uphill J, Collinson C, Druyeh R, Adamson G, Hummerich H, Zerr I, Gambetti P, Collinge J, Mead S. BMC Med Genet. 2016; 17(1):28. doi: 10.1186/s12881-016-0278-2  

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer’s disease.
Schott JM, Crutch SJ, Carrasquillo MM, Uphill J, Shakespeare TJ, Ryan NS, Yong KX, Lehmann M, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Murray ME, Khan QU, Petersen RC, Dickson DW, Knopman DS, Rabinovici GD, Miller BL, Gonzalez AS, Gil-Néciga E, Snowden JS, Harris J, Pickering-Brown SM, Louwersheimer E, van der Flier WM, Scheltens P, Pijnenburg YA, Galasko D, Sarazin M, Dubois B, Magnin E, Galimberti D, Scarpini E, Cappa SF, Hodges JR, Halliday GM, Bartley L, Carrillo MC, Bras JT, Hardy J, Rossor MN, Collinge J, Fox NC, Mead S. Alzheimers Dement. 2016; 12(8):862-71. doi: 10.1016/j.jalz.2016.01.010

Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease.
Mead S, Burnell M, Lowe J, Thompson A, Lukic A, Porter MC, Carswell C, Kaski D, Kenny J, Mok TH, Bjurstrom N, Franko E, Gorham M, Druyeh R, Wadsworth JD, Jaunmuktane Z, Brandner S, Hyare H, Rudge P, Walker AS, Collinge J. JAMA Neurol. 2016; 73(4):447-55. doi: 10.1001/jamaneurol.2015.4885

Prion-mediated neurodegeneration is associated with early impairment of the ubiquitin-proteasome system.
McKinnon C, Goold R, Andre R, Devoy A, Ortega Z, Moonga J, Linehan JM, Brandner S, Lucas JJ, Collinge J, Tabrizi SJ. Acta Neuropathol. 2016; 131(3):411-25. doi: 10.1007/s00401-015-1508-y.

2015

Preclinical detection of infectivity and disease-specific PrP in blood throughout the incubation period of prion disease.
Sawyer EB, Edgeworth JA, Thomas C, Collinge J, Jackson GS. Sci Rep. 2015 Dec 3;5:17742. doi: 10.1038/srep17742.

A systematic investigation of production of synthetic prions from recombinant prion protein.
Schmidt C, Fizet J, Properzi F, Batchelor M, Sandberg MK, Edgeworth JA, Afran L, Ho S, Badhan A, Klier S, Linehan JM, Brandner S, Hosszu LL, Tattum MH, Jat P, Clarke AR, Klöhn PC, Wadsworth JD, Jackson GS, Collinge J. Open Biol. 2015 Dec; 5(12). pii: 150165. doi: 10.1098/rsob.150165.

Evolution of Diffusion-Weighted Magnetic Resonance Imaging Signal Abnormality in Sporadic Creutzfeldt-Jakob Disease, With Histopathological Correlation.
Eisenmenger L, Porter MC, Carswell CJ, Thompson A, Mead S, Rudge P, Collinge J, Brandner S, Jäger HR, Hyare H. JAMA Neurol. 2015 Nov 16:1-9. doi: 10.1001/jamaneurol.2015.3159. [Epub ahead of print]

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Clayton EL, Mizielinska S, Edgar JR, Nielsen TT, Marshall S, Norona FE, Robbins M, Damirji H, Holm IE, Johannsen P, Nielsen JE, Asante EA, Collinge J; FReJA consortium, Isaacs AM. Acta Neuropathol. 2015 Oct;130(4):511-23.

Evidence for human transmission of amyloid ß pathology and cerebral amyloid angiopathy Zane Jaunmuktane, Simon Mead, Matthew Ellis, Jonathan D. F. Wadsworth, Andrew J. Nicoll, Joanna Kenny,Francesca Launchbury, Jacqueline Linehan, Angela Richard-Loendt, A. Sarah Walker, Peter Rudge, John Collinge & Sebastian Brandner

Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years
Rudge, P., Jaunmuktane, Z., Adlard, P., Bjurstrom, N., Caine, D., Lowe, J., Norsworthy, P., Hummerich, H., Druyeh, R., Wadsworth, J.D.F., Brandner, S., Hyare, H., Mead, S. and Collinge, J. Brain 138, 3386-3399.

Inherited mtDNA variations are not strong risk factors in human prion disease
Gavin Hudson, James Uphill, Holger Hummerich, Janice Blevins, Pierluigi Gambetti, Inga Zerr, John Collinge, Simon Mead, Patrick F. Chinnery

Neuronal antibodies in patients with suspected or confirmed sporadic Creutzfeldt-Jakob disease
Rossi M, Mead S, Collinge J, Rudge P, Vincent A.J Neurol Neurosurg Psychiatry. 2015; 86 692-4.

Identification of clinical target areas in the brainstem of prion infected mice.
Mirabile I, Jat PS, Brandner S, Collinge JNeuropathol Appl Neurolbiol. 2015; 41 613-30. 

Convergent genetic and expression data implicate immunity in Alzheimer's disease.
Jones L, Lambert J, Wang L, Choi S, Harold D, Vedernikov A, Escott-Price V, Stone T, Richards A, Bellenguez C, Ibrahim-Verbaas C, Naj A, Sims R, Gerrish A, Jun G, DeStefano A, Bis J, Beecham G, Grenier-Boley B, Russo G, Thornton-Wells T, Jones N, Smith A, Chouraki V, Thomas C, Ikram M, Zelenika D, Vardarajan B, Kamatani Y, Lin C, Schmidt H, Kunkle B, Dunstan M, Ruiz A, Bihoreau M, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick A, Buxbaum J, Campion D, Crane P, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez O, De Jager P, Deramecourt V, Johnston J, Evans D, Lovestone S, Letteneur L, Kornhuber J, Tárraga L, Rubinsztein D, Eiriksdottir G, Sleegers K, Goate A, Fiévet N, Huentelman M, Gill M, Emilsson V, Brown K, Kamboh M, Keller L, Barberger-Gateau P, McGuinness B, Larson E, Myers A, Dufouil C, Todd S, Wallon D, Love S, Kehoe P, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleò A1, Bayer A, Tsuang D, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia F, Fox N, Hardy J, Deniz Naranjo M, Razquin C, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Mrc Cfas, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert J, Mayhaus M, Jessen F, Dichgans M Lannfelt L, Hakonarson H, Pichler S, Carrasquillo M, Ingelsson M, Beekly D, Alavarez V, Zou F, Valladares O, Younkin S, Coto E, Hamilton-Nelson K, Mateo I, Owen M, Faber K, Jonsson P, Combarros O, O'Donovan M, Cantwell L, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett D, Harris T, Fratiglioni L, Holmes C, de Bruijn R, Passmore P, Montine T, Bettens K, Rotter J, Brice A, Morgan K, Foroud T, Kukull W, Hannequin D, Powell J, Nalls M, Ritchie K, Lunetta K, Kauwe J, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin E, Pastor P, Schmidt R, Rujescu D, Dartigues J, Mayeux R, Tzourio C, Hofman A, Nöthen M, Graff C, Psaty BM, Haines J, Lathrop M, Pericak-Vance M, Launer L, Farrer L, van Duijn C, Van Broeckhoven C, Ramirez A, Schellenberg G, Seshadri S, Amouyel P, Williams J, Holmans P. Alzheimers Dement. 2015; 11 658-71.

Rare structural genetic variation in human prion diseases
Lukic A, Uphill J, Brown C, Beck J, Poulter M, Campbell T, Adamson G, Hummerich H, Whitfield J, Ponto C, Zerr I, Lloyd S, Collinge J. Neurobiology of Aging. 2015; 36 2004.e1-8.

Genome-wide association study of behavioural and psychiatric features in human prion disease
Thompson A, Uphill J, Lowe J, Porter M, Lukic A, Carswell C, Rudge P, Mackay A, Collinge J, Mead S. Translational Psychiatry. 2015 21; 5:e552.

The cognitive profile of prion disease: a prospective clinical and imaging study
Caine D, Tinelli RJ, Hyare H, De Vita E, Lowe J, Lukic A, Thompson A, Porter M-C, Cipolotti L, Rudge P, Collinge C, Mead S. Annals Clin Trans Neurol 2015; 2 548-58.

A novel Alzheimer disease locus located near the gene encoding tau protein
Jun G, Ibrahim-Verbaas C, Vronskaya M, Lambert J, Chung J, Naj A, Kunkle B, Wang L, Bis J, Bellenguez C, Harold D, Lunetta KL, Destefano A, Grenier-Boley B, Sims R, Beecham G, Smith A, Chouraki V, Hamilton-Nelson K, Ikram M, Fievet N, Denning N, Martin E, Schmidt H, Kamatani Y, Dunstan M, Valladares O, Laza A, Zelenika D, Ramirez A, Foroud T, Choi S, Boland A, Becker T, Kukull W, van der Lee S, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick A, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett D, Amin N, Berr C, Tsolaki M, Buxbaum J, Lopez O, Deramecourt V, Fox N, Cantwell L, Tárraga L, Dufouil C, Hardy J, Crane P, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley T Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues J, Hampel H, Kamboh M, de Bruijn R, Tzourio C, Pastor P, Larson E, Rotter J, O'Donovan M, Montine T, Nalls M, Mead S, Reiman E, Jonsson P, Holmes C, St George-Hyslop P, Boada M, Passmore P, Wendland J, Schmidt R, Morgan K, Winslow A, Powell J, Carasquillo M, Younkin S, Jakobsdóttir J, Kauwe J, Wilhelmsen K, Rujescu D, Nöthen M, Hofman A, Jones L; IGAP Consortium, Haines J, Psaty B, Van Broeckhoven C, Holmans P, Launer L, Mayeux R, Lathrop M, Goate A, Escott-Price V, Seshadri S, Pericak-Vance M, Amouyel P, Williams J, van Duijn C, Schellenberg G, Farrer L.Mol Psychiatry. 2015, March 17. doi: 10.1038/mp.2015.23.

A novel and rapid method for obtaining high titre intact prion strains from mammalian brain  Adam Wenborn, Cassandra Terry, Natalie Gros, Susan Joiner, Laura D’Castro, Silvia Panico, Jessica Sells, Sabrina Cronier, Jacqueline M. Linehan, Sebastian Brandner, Helen R. Saibil, John Collinge & Jonathan D. F. Wadsworth

Identification of a compound which disrupts binding of amyloid-beta to the prion protein using a novel fluorescence-based assay Emmanuel Risse, Andrew J. Nicoll, William A. Taylor, Daniel Wright, Mayank Badoni, Xiaofan Yang, Mark A. Farrow and John Collinge J Biol Chem. 2015; 290 17020-8.

A naturally occurring variant of the human prion protein completely prevents prion disease   Emmanuel A. Asante, Michelle Smidak, Andrew Grimshaw1, Richard Houghton, Andrew Tomlinson, Asif Jeelani, Tatiana Jakubcova, Shyma Hamdan, Angela Richard-Londt, Jacqueline M. Linehan, Sebastian Brandner, Michael Alpers, Jerome Whitfield, Simon Mead, Jonathan D.F. Wadsworth and John Collinge

Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS. Asante EA, Grimshaw A, Smidak M, Jakubcova T, Tomlinson A, Jeelani A, Hamdan S, Powell C, Joiner S, Linehan JM, Brandner S, Wadsworth JD, Collinge J

2014

GWAS of behavioural and psychiatric features in human prion disease
Thompson A, MacKay A, Rudge P, Lukic A, Porter M-C, Lowe J, Collinge J, Mead S.
Translational Psychiatry 2014

A Novel Alzheimer Disease Locus Located Near the Gene Encoding Tau Protein
Vronskaya M, Harold D, Sims R, Denning N, Thomas C, Gerrish A, Dunstan M, Ramirez A, Becker T, Cruchaga C, Craig D, Johnston J, Lovestone S, Rubinsztein D, Goate A, Gill M, Brown K, McGuinness B, Love S, Gallacher J, Bayer A, Tsolaki M, Proitsi P, Collinge J, Fox N, Hardy J, Clarke R, Brayne C, Moebus S, Maier W, Hampel H, Mayhaus M, Pichler S, Carrasquillo M, Younkin S, Pastor P, Ortega-Cubero S, Owen M, O’Donovan M, Mead S, Holmes C, Passmore P, Morgan K, Powell J, Kauwe J, Riemenschneider M, Nöthen M, Jones L, Holmans P, Escott-Price V, Williams J.  Lancet 2014 

Trem2 variants increase risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
Slattery C, Beck J, Harper L, Adamson G, Abdi Z, Uphill J, Campbell T, Druyeh R, Mahoney C, Rohrer J, Kenny J, Lowe J, Leung K, Barnes J, Clegg S, Blair M, Nicholas J, Guerreiro R, Rowe J, Ponto C, Zerr I, Kretzschmar H, Gambetti P, Crutch S, Warren J, Rossor M, Fox N, Collinge J, Schott J, Mead S.
J Neurol Neurosurg Psychiatry 2014; 85: e3.

N-terminal domain of prion protein directs its oligomeric association
Trevitt C, Hosszu L, Batchelor M, Panico S, Terry C, Nicoll A, Risse E, Taylor W, Sandberg M, Al-Doujaily H, Linehan J, Saibil H, Scott D, Collinge J, Waltho J, Clarke A. 
Journal of Biological Chemistry. 2014, Jul 29.Epub ahead of print. .

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
Slattery C, Beck J, Harper L, Adamson G, Abdi Z, Uphill J, Campbell T, Druyeh R, Mahoney C, Rohrer J, Kenny J, Lowe J, Leung K, Barnes J, Clegg S, Blair M, Nicholas J, Guerreiro R, Rowe J, Ponto C, Zerr I, Kretzschmar H, Gambetti P, Crutch S, Warren J, Rossor M, Fox N, Collinge J, Schott J, Mead S.
Alzeimers Dement. 2014, Aug 23, Epub ahead of print.

Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease
Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; the United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J. Gene-Wide . PLoS One 2014; 9: e94661.

Prion neuropathology follows the accumulation of alternate prion protein isoforms after infective titre has peaked
Sandberg M, Al-Doujaily H, Sharps B, Wiggins De Oliveira M, Schmidt C, Richard-Londt A, Lyall S, Linehan J, Brandner S, Wadsworth J, Clarke A, Collinge J. Prion Nat Commun 2014

In-vitro screen of prion disease susceptibility genes using the scrapie cell assay
Brown CA, Schmidt C, Poulter M, Hummerich H, Klöhn PC, Jat P, Mead S, Collinge J, Lloyd SE.
Hum Mol Genet 2014

Frontotemporal dementia and its subtypes: a genome wide association study
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JBJ, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L,Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A,Cruchaga C, Cairns NJ, Benussi L, Bineetti G, Ghidoni R, Forloni G, Galimberti D,
Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Landqvist WaldöM, Nilsson K, Nillson C, Mackenzie IRA, Hsuing G-YR, Mann DMA, Grafman J,Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED,Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainer I,Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F,Giaccone G, Rowe JB, Schlachetzki JCM, Uphill J, Collinge J, Mead S, Danek A, VanDeerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamp W, VanLangenhove T, Cruts M, Van Broeckhoven C, The Belgian Neurology Consortium and the European Early-Onset Dementia consortium, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, The French research network on FTLD/FTLD-ALS, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pilcher S, Gu W, RossorMN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernadi L, Anfossi M, Gallo M , Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Joseph KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, Van Swieten JC, Dopper EGP, Seelaar H, Pijnenburg YAL, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Uk Brain Expression Consortium, North America Brain Expression Consortium, Ferrucci L, Pickering-Brown S, Hardy J, Momeni P, Singleton AB. Lancet 2014; 13: 686-99.

Administration of a Humanized Anti-PrP Antibody Blocks Alzheimer's Disease Aβ Synaptotoxicity
Klyubin I, Nicoll AJ, Khalili-Shirazi A, Farmer M, Canning S, Mably A, Linehan J, Brown A, Wakeling M, Brandner S, Walsh DM, Rowan MJ, Collinge J. Peripheral. J Neurosci 2014; 34: 6140-5.

Predictive testing for inherited prion disease: report of 22 years experience
Owen J, Beck J, Campbell T, Adamson G, Gorham M, Thompson A, Smithson S, Rosser E, Rudge P, Collinge J, Mead S.  Eur J Hum Genet 2014

Blood test for variant Creutzfeldt-Jakob Disease – reply
Jackson GS, Burk-Rafel J, Mead S, Collinge J. JAMA Neurol 2014: 71(8):1054-5.

Population Screening for Variant Creutzfeldt-Jakob Disease Using a Novel Blood Test: Diagnostic Accuracy and Feasibility Study
Jackson G, Burk-Rafel J, Edgeworth J, Sicilia A, Abdilahi S, Korteweg J, Mackey J, Thomas C, Wang G, Schott J, Mummery C, Chinnery P, Mead S, Collinge J. JAMA Neurol 2014; 71: 421-8.

Identification of a gene regulatory network associated with prion replication
Marbiah M, Harvey A, West BT, Louzolo A, Banerjee P, Alden J, Grigoriadis A, Hummerich H, Kan HM, Cai Y, Bloom GS, Jat P, Collinge J, Klöhn PC. EMBO J 2014

Microglial Cx3cr1 knockout reduces prion disease incubation time in mice.
Grizenkova J, Akhtar S, Brandner S, Collinge J, Lloyd SE. BMC Neurosci 2014; 15:44.

A highly specific blood test for vCJD
Jackson GS, Burk-Rafel J, Edgeworth JA, Sicilia A, Abdilahi S, Korteweg J, Mackey J, Thomas C, Wang G, Mead S, Collinge J. Blood 2014; 123: 452-3.

mGlu5 receptors and cellular prion protein mediate amyloid-β facilitation of synaptic long-term depression in vivo
Hu NW, Nicoll A, Zhang D, Mably A, O'Malley T, Purro S, Terry C, Collinge J, Walsh D, and Rowan M. Nat Commun 2014; 5: 3374.

Behavioural and psychiatric symptoms in Prion disease
Thompson A, MacKay A, Rudge P, Lukic A, Porter MC, Lowe J, Collinge J, Mead S. Amer J
Psychiatry 2014;171: 265-74.

Variant Creutzfeldt-Jakob disease with extremely low lymphoreticular deposition of prion protein
Mead S, Wadsworth JDF, Porter MC, Linehan J, Pietkiewicz W, Jackson GS, Brandner S, Collinge J.  JAMA Neurol 2014; 71: 340-3.

2013

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC,
Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease (GERAD); Alzheimer's Disease Genetic Consortium (ADGC); Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P. Nat Genet 2013; 45: 1452-8.

Authors’ response to comment on ‘Autoantibodies in sporadic Creutzfeldt-Jakob disease’
Angus-Leppan H, Rudge P, Mead S, Collinge J, Vincent A . JAMA Neurol 2013; 70: 1589.

Inherited Prion Disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein
Asante EA, Linehan JM, Smidak M, Tomlinson A, Grimshaw A, Jeelani A, Jakubcova T, Hamdan S, O’Malley C, Powell C, Brandner S, Wadsworth JDF, Collinge J.  PLoS Pathog 2013; 9: e1003643.

Atypical scrapie prions from sheep fail to produce disease in transgenic mice overexpressing human prion protein.
Wadsworth JDF, Joiner S, Linehan JM, Balkema-Buschmann A, Spiropoulos J, Simmons MM, Griffiths PC, Groschup MH, Hope J, Brandner S, Asante EA, Collinge J. Emerg Infect Dis 2013; 19: 1731-39.

Amyloid-β nanotubes are associated with prion protein dependent synaptotoxicity.
Nicoll AJ, Panico S, Freir D, Wright D, Terry C, Risse E, Herron CE, O’Malley T, Wadsworth J, Farrow M, Walsh D, Saibil HR, Collinge J.  Nat Commun 2013; 4: 2416. 

Validation of next generation sequencing technologies in genetic diagnosis of dementia
Beck J, Pittman A, Adamson G, Campbell T, Kenny J, Houlden H, Rohrer JD, de Silva R, Shoai M, Uphill J, Poulter M, Hardy J, Mummery CJ, Warren JD, Schott JM, Fox NC, Rossor MN, Collinge J, Mead S.  Neurobiol Aging 2013; 35: 261-5.

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EMC, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Neuropathol 2013; 126: 401- 9.

A novel prion disease presenting with diarrhea and autonomic neuropathy
Mead S, Gandhi S, Beck J, Caine D, Gallujipali D, Carswell C, Hyare H, Joiner S, Ayling H, Lashley T, Linehan JM, Al-Doujaily H, Sharps B, Revesz T, Sandberg M, Reilly M, Koltzenburg M, Forbes A, Rudge P, Brandner S, Warren JD, Wadsworth JDF, Wood NW, Holton JL, Collinge J.  New Eng J Med 2013; 369: 1904-14.

Autoantibodies in sporadic Creutzfeldt-Jakob disease
Angus-Leppan H, Rudge P, Mead S, Collinge J, Vincent A. JAMA Neurol 2013; 70: 919-22.

Alternative fates of newly formed PrPSc upon prion conversion on the plasma membrane
Goold R, McKinnon C, Rabbanian S, Collinge J, Schiavo G, Tabrizi SJ.  J Cell Sci 2013; 126: 3552-62.

Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases
Reiniger L, Mirabile I, Lukic A, Wadsworth JDF, Linehan JM, Groves M, Lowe J, Druyeh R, Rudge P, Collinge J, Mead S, Brandner S. Acta Neuropathol Comm 2013; 1: 8.

Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study.
Stokholm J, Teasdale TW, Johannsen P, Nielsen JE, Nielsen TT, Isaacs A, Brown JM, Gade A; Frontotemporal dementia Research in Jutland Association (FReJA) consortium.
J Neurol Neurosurg Psychiatry 2013; 84: 170-6.

The Medical Research Council Prion Disease Rating Scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies
Thompson A, Lowe J, Fox Z, Lukic A, Porter MC, Ford L, Gorham M, Gopalakrishnan G, Rudge P, Walker SA, Collinge J, Mead S. Brain 2013; 136: 1116-27.

Sod1 deficiency reduces incubation time in mouse models of prion disease
Akhtar S, Grizenkova J, Wenborn A, Hummerich H, Fernandez de Marco M, Brandner S, Collinge J, Lloyd SE.  PLoS One 2013; 8: e54454.

Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease
De Vita E, Ridgway GR, Scahill R, Caine D, Rudge P, Yousry T, Mead S, Collinge J, Jäger HR, Thornton JS, Hyare H. AJNR Am J Neuroradiol 2013; 34: 1723-30.

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer’s disease risk.
Chapman J, Rees E, Harold D, Invanov D, Gerrish A, Sims R, Hollingworth P, Stretton A, GERAD1 Consortium, Holmans P, Owen MJ, O’Donovan MC, Williams J, Kirov G.  Hum Mol Genet 2013; 22: 816-24.

TREM2 variants predispose to Alzheimer’s disease
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JSK, Lupton MK, Mina Ryten1, Kristelle Brown9, the EADI Consortium, the GERAD Consortium, the UKBE Consortium, Lowe J, Ridge PG, Hammer MB, Wakutani Y, Hazrati L, Proitsi P, Newhouse S, Lohmann E, Erginel- Unaltuna N, Medway C, Hanagasi H, Troakes C, Gurvit H, Bilgic B, Al-Sarraj S, Benitez B, Cooper B, Carrell D, Emre M, Zou F, Ma L, Murray M, Dickson D, Younkin S, Petersen RC, Corcoran CD, Cai Y, Oliveira C, Ribeiro MH, Santana I, Tschanz JT, Gibbs R, Norton MC, Kloszewska I, Mecocci P, Soininen H, Tsolaki M, Vellas B, Munger RG, Mann DMA, Pickering-Brown S, Lovestone S, Beck J, Mead S, Collinge J, Parsons L, Pocock J, Morris JC, Revesz T, Lashley T, Fox NC, Rossor MN, Grenier-Bolay B, Bellenguez C, Moskvina V, Sims R, Harold D, Williams J, Lambert JC, Amouyel P, Graff-Radford N, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J. N Engl J Med 2013; 368: 117-2.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Am J Hum Genet 2013; 92: 345-53.

2012

Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS)
Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P, Powell J, Lovestone S, Goate A, Younkin S, Passmore P; Genetic and Environmental Risk for Alzheimer's Disease Consortium, Morgan K; Alzheimer's Research UK Consortium. Neurobiol Aging 2012; 33: 1849.

The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk.
Hamilton G, Harris SE, Davies G, Liewald DC, Tenesa A, Payton A, Horan MA, Ollier WE, Pendleton N; Genetic and Environmental Risk for Alzheimer's Disease (GERAD1) Consortium, Starr JM, Porteous D, Deary IJ.  Am J Med Genet B Neuropsychiatr Genet 2012; 159B: 696-70.

Large C9orf72 hexanucleotide repeat expansion mutations defined by a modified Southern blot are seen in multiple neurodegenerative syndromes and are of a higher frequency than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer J, Mahoney C, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren J, Collinge J, Mead S.  Hum Mol Genet 2012; 92: 345-353.

MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease
Carswell C, Thompson A, Lukic A, Stevens J, Rudge P, Mead S, Collinge J, Hyare H. BMC Neurol 2012; 12: 153.

Video rating in neurodegenerative disease clinical trials: the experience of PRION-1.
Carswell C, Rañopa M, Pal S, MacFarlane R, Siddique D, Thomas D, Webb T, Wroe S, Walker S, Darbyshire J, Collinge J, Mead S, Rudge P. Dement Geriatr Cogn Dis Extra 2012; 2: 286-97.

Letter: 11C-PiB PET does not detect PrP-amyloid in prion disease patients including variant Creutzfeldt-Jakob disease
Hyare H, Ramlackhansingh A, Gelosa G, Edison P, Rudge P, Brandner S, Brooks D, Collinge J, Mead S.  J Neurol Neurosurg Psychiatry 2012; 83: 340-1.

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference
Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE; FReJA Consortium.  J Gene Med 2012; 14: 521-9

Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus
Hamilton G, Killick R; Genetic and Environmental Risk for Alzheimer's Disease Consortium; Translational Genomics Research Institute Consortium, Lambert JC, Amouyel P; European Alzheimer Disease Initiative, Carrasquillo MM, Pankratz VS, Graff-Radford NR, Dickson DW, Petersen RC, Younkin SG, Powell JF, Wade-Martins R.  Neurobiol Aging 2012; 33: 1848.

Overexpression of Hspa13 (Stch) reduces prion disease incubation time in mice
Grizenkovaa J, Akhtara S, Hummerich H, Tomlinson A, Asante E, Wenborn A, Wiseman FK, Fisher EMC, Tybulewiczc VL, Brandner S, Collinge J, Lloyd SE. Proc Natl Acad Sci USA 2012; 109: 13722-7.

No consistent evidence for association between mtDNA variants and Alzheimer disease.
Hudson G, Sims R, Harold D, Chapman J, Hollingworth P, Gerrish A, Russo G, Hamshere M, Moskvina V, Jones N, Thomas C, Stretton A, Holmans PA, O'Donovan MC, Owen MJ, Williams J, Chinnery PF;GERAD1 Consortium. Neurology 2012; 78: 1038-42.

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD.  Brain 2012; 135: 736-50.

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J, Isaacs AM.  Brain 2012; 135: 819-32.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross sectional study
Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, The Chromosome 9-ALS/FTD Consortium, The French research network on FTLD/FTLD/ALS, The ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin JM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura T, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor B J.  Lancet Neurol 2012; 11: 323-30.

Plasmacytoid dendritic cells sequester high prion titres at early stages of prion infection
Castro-Seoane R, Hummerich H, Sweeting T, Tattum HM, Linehan JM, Fernandez de Marco M, Brandner S, Collinge J, Klöhn PC.  PLoS Pathog 2012; 8: e1002538.

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation
Beck J, Collinge J, Mead S.  Brain 2012; 135: e209.

Prion protein antibodies do not trigger mouse hippocampal neuron apoptosis.
Klöhn PC, Farmer M, Linehan JM, O'Malley C, Fernandez de Marco M, Taylor W, Farrow M, Khalili-Shirazi A, Brandner S, Collinge J. Science 2012; 335: 52.

Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation
Alner K, Hyare H, Mead S, Rudge P, Wroe S, Rohrer JD, Ridgeway G, Ourselin S, Clarkson M, Hunt H, Fox NC, Webb T, Collinge J, Cipolotti L.  J Neurol Neurosurg Psychiatry 2012; 83: 109-14.

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease
Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, Bussche HV, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J. J Alzheimers Dis 2012; 28: 377-87.

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
McNaughton D, Knight W, Guerreiro R, Ryan N, Lowe J, Poulter M, Nicholl D, Hardy J, Rossor, M, Collinge J, Mead S.  Neurobiol Ageing 2012; 33: 426

Genomewide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP
Mead S, Uphill J, Beck J, Poulter M, Campbell T, Lowe J, Adamson G, Hummerich H, Klopp N, Ruckert IM, Wichmann HE, Azazi D, Plagnol V, Pako H, Whitfield J, Alpers MP, Whittaker J, Balding D, Zerr I, Kretzschmar H, Collinge J.  Hum Mol Genet 2012; 21: 1897-906.

PRION-1 scales analysis supports use of functional outcome measures in prion disease
Mead S, Ranopa M, Gopalakrishnan GS, Thompson AG, Rudge P, Wroe S, Kennedy A, Hudson F, MacKay A, Darbyshire JH, Collinge J, Walker AS 2011; 77: 1674-83. Erratum in: Neurology 2012; 78: 371.

2011

Sex effects in mouse prion disease incubation time
Akhtar S, Wenborn A, Brandner S, Collinge J, Lloyd SE. PLoS One 2011; 6: e28741.

No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.
Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuiness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J.  Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 764-71.

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry
Deriziotis P, André R, Smith DM, Goold R, Kinghorn KJ, Kristiansen M, Nathan JA, Rosenzweig R, Krutauz D, Glickman MH, Collinge J, Goldberg AL, Tabrizi SJ.  EMBO J 2011; 30: 3065-77.

PRION-1 scales analysis supports use of functional outcome measures in prion disease
Mead S, Ranopa M, Gopalakrishnan GS, Thompson A, Rudge P, Wroe S, Kennedy A, Hudson F, Mackay A, Darbyshire J, Collinge J, Walker S.  Neurology 2011; 77: 1674-83.

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors
Kaski DN, Pennington C, Beck J, Poulter M, Uphill J, Bishop MT, Linehan JM, O'Malley C, Wadsworth JDF, Joiner S, Knight RSG, Ironside JW, Brandner S, Collinge J, Mead S.  Brain 2011; 134: 1829-1838.

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; the Alzheimer's Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, Destefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S; CHARGE consortium, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M; EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snædal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J.  Nat Genet 2011; 43: 429-435.

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.
Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn P, Mann D, Van Broeckhoven C, Pickering-Brown S. Neurobiol Aging 2011; 32: 754-5.

Rapid cell-surface prion protein conversion revealed using a novel cell system
Goold R, Rabbanian S, Sutton L, Andre R, Arora P, Moonga J, Clarke AR, Schiavo G, Jat P, Collinge J, Tabrizi SJ. Nat Commun 2011; 2: 281.

Interaction between cellular prion protein and toxic Aβ oligomers can be therapeutically targeted at multiple sites
Freir DB, Nicoll AJ, Klyubin I, Panico S, Mc Donald JM, Risse E, Asante EA, Farrow -MA, Sessions RB, Saibil HR, Clarke AR, Rowan MJ, Walsh DM Collinge J. Nat Commun 2011; 2: 336

A novel exon 2 VCP variant is associated with dissimilar clinical :syndromes.
Rohrer JD, Warren JD, Reiman D, Uphill J, Beck J, Collinge J, Rossor MN, Isaacs AM, Mead S.
J Neurol 2011; 258: 1494-6.

Comment on validation of diagnostic criteria for variant Creutzfeldt-Jakob disease
Lukic A, Mead S, Rudge P, Collinge J.  Ann Neurol 2011; 69: 212.

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay.
Edgeworth JA, Farmer M, Sicilia A, Tavares P, Beck J, Campbell T, Lowe J, Mead S, Rudge P, Collinge J, Jackson GS. Lancet 2011; 377: 487-93.

Familial Alzheimer’s disease and inherited prion disease in the UK are poorly ascertained
Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S. J Neurol Neurosurg Psychiatry 2011; 82: 1054-1057.

Tau, prions and Aβ: The triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S.  Acta Neuropathol 2011; 121: 5- 20.

Threshold for epileptiform activity is elevated in prion knockout mice
Ratte S, Vreugdenhil M, Boult JK, Patel A, Asante EA, Collinge J, Jefferys JG. 
Neuroscience 2011; 179: 56-61.

Effect of fixation on brain and lymphoreticular vCJD prions and bioassay of key positive specimens from a retrospective vCJD prevalence study
Wadsworth JDF, Dalmau-Mena I, Joiner S, Linehan J, O'Malley C, Powell C, Brandner S, Asante EA, Ironside JW, Hilton DA, Collinge J.  J Pathol 2011; 223: 511-8.

Prion propagation and toxicity in vivo occur in two distinct mechanistic phases
Sandberg MK, Al-Doujaily H, Sharps B, Clarke AR, Collinge J.  Nature 2011; 470: 540-2.

Standardised comparison of commercially available prion decontamination reagents using the standard Steel Binding Assay
Edgeworth JA, Sicilia A, Linehan J, Brandner S, Jackson GS, Collinge J.  J Gen Virol 2011; 92: 718-26.

2010

The retinoic acid receptor beta (Rarb) region of Mmu14 is associated with prion disease incubation time in mouse.
Grizenkova J, Akhtar S, Collinge J, Lloyd SE. PLoS One 2010; 5: e15019. 

A standardised comparison of commercially available prion decontamination reagents using the standard steel binding assay
Edgeworth JA, Sicilia A, Linehan J, Brandner S, Jackson GS, Collinge J.
J Gen Virol. 2010 Nov 17.

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of
Alzheimer's disease

Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J.  PLoS One 2010; 5: e13950.

Isolation of proteinase K-sensitive prions using pronase E and phosphotungstic acid
D’Castro L, Wenborn A, Gros N, Joiner S, Cronier S, Collinge J, Wadsworth JDF. PLoS One 2010; 5: e15679.

Magnetization transfer ratio may be a surrogate of spongiform change in human prion diseases
Siddique D, Hyare H, Wroe S, Webb T, Macfarlane R, Rudge P, Collinge J, Powell C, Brandner S, So PW, Walker S, Mead S, Yousry T, Thornton JS.  Brain 2010; 133: 3058-68.

The H187R mutation of the human prion protein induces conversion of recombinant prion protein to PrPSc-like form
Hosszu L, Tattum H, Jones S, Trevitt CR, Wells MA, Waltho JP, Collinge J, Jackson GS, Clarke AR.
Biochemistry 2010; 49: 8729-38.

Amyloid beta-protein dimers rapidly form stable synaptotoxic protofibrils
O'Nuallain B, Freir DB, Nicoll AJ, Risse E, Ferguson N, Herron CE, Collinge J, Walsh DM.
J Neurosci 2010; 30: 14411-19.

Pharmacological chaperone for the structured domain of human prion protein
Nicoll A, Trevitt C, Risse E, Quaterman E, Ibarra AA, Wright C, Jackson GS, Sessions R, Farrow M, Waltho J, Clarke A, Collinge J.  Proc Natl Acad Sci USA 2010; 107; 17610-5. 

Tau, prions and Ab: the triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S.
Acta Neuropathol. 2010 May 16.

Chronic wasting disease prions are not transmissible to transgenic mice over-expressing human prion protein
Sandberg MK, Al-Doujaily H, Sigurdson CJ, Glatzel M, O’Malley C, Powell C, Asante EA, Linehan JM, Brandner S, Wadsworth JDF, Collinge J.  J Gen Virol 2010; 91: 2651-7.

Spontaneous generation of mammalian prions
Edgeworth J, Gros N, Alden J, Joiner S, Wadsworth JDF, Linehan J, Brandner S, Jackson GS, Weissmann C, Collinge J.  Proc Natl Acad Sci USA 2010; 107: 14402-6.

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Urwin H, Josephs KA, Rohrer JD, Authier A, Neumann M, Mackenzie IR, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE, The FReJA Consortium, Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White III CL, Weiner MF, Van Deerlin VM, Trojanowski JQ, Miller BL, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Bigio EH, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Uphill J, Ghazi-Noori S, Fisher EMC, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S. Isaacs AM.  Acta Neuropathol 2010; 120: 33-41.

Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis
Chia R, Tattum HM, Jones S, Collinge J, Fisher EMC, Jackson GS.  PlosOne 2010; 5: e10627. 

Genetic Variability in CLU and Its Association with Alzheimer's Disease
Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J
  PLoS One. 2010 Mar 3;5(3)

A highly sensitive immunoassay for the detection of prion-infected material in whole human blood without the use of proteinase K.
Tattum MH, Jones S, Pal S, Khalili-Shirazi A, Collinge J, Jackson GS. Transfusion 2010; 50: 2619-27.

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
Beck JA, Poulter M, Campbell TA, Adamson G, Uphill JB, Guerreiro R, Stephens JC, Jackson GS, Manji H, Collinge J, Mead S.  Hum Mut 2010; 31: E1551- 63.

Discrimination between prioninfected and normal blood samples by protein misfolding cyclic amplification
Tattum MH, Jones S, Pal S, Collinge J, Jackson GS. Transfusion 2010; 50: 996-1002.

Genetic variability in CLU and its association with Alzheimer's disease
Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J.  PLoS One 2010; 5: e9510.

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
Urwin H, Authier A, Neilsen J, Powell C, Metcalf D, Froud K, Holm I, Johannsen P, Brown J, Fisher E, van der Zee J, Bruyland M, Van Broeckhoven C, Collinge J, Brander S, Futter C, Isaacs A.
Hum Mol Genet 2010; 19: 2228-38.

Heterozygosity at polymorphic codon 219 in variant Creutzfeldt-Jakob disease.
Lukic A, Beck JA, Joiner S, Fearnley J, Sturman S, Brandner S, Wadsworth JDF, Collinge J, Mead S.  Arch Neurol 2010; 67: 1021-3.

High-b-value diffusion mr imaging and basal nuclei apparent diffusion coefficient measurements in variant and sporadic Creutzfeldt-Jakob disease
Hyare H, Thornton J, Stevens J, Mead S, Rudge P, Collinge J, Yousry TA, Jäger HR.
Amer J Neuroradiol 2010; 31: 521-6.

Brain-water diffusion coefficients reflect the severity of inherited prion disease
Hyare H, Wroe SJ, Siddique D, Stevens J, Webb T, Fox N, Collinge J, Yousry T, Thornton J.
Neurology 2010; 74: 658-65.

A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse
Lloyd SE, Maytham EG, Grizenkova J, Hummerich H, Collinge J. Neurogenetics 2010; 11: 185-91.

PAW35 Anti-prion protein monoclonal antibodies at low doses effectively treat prion disease in mice without side-effects
Carswell C, Khalili-Shirazi A, Brandner S, Martins S, Drynda R, Collinge J, Mead S, Clarke A.
J Neurol Neurosurg Psychiatry 2010; 81: e33.

2009

HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q.
Lloyd SE, Rossor M, Fox N, Mead S, Collinge J.  BMC Med Genet 2009; 10: 90.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere M, Singh Pahwa J, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan A, Lovestone S, Powell J, Priotsi P, Brayne C, Rubinzstein D, Gill M, Lawlor B, Morgan K, Brown K, Passmore P, Craig D, McGuinness B, Todd S, Holmes C,
Mann D, Smith D, Lehmann D, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Nöthen M, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Goate A, Kauwe JSK, Cruchaga C, Nowotny P, Morris JC, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, van Broeckhoven C, Bettens K, Sleegers K, Singleton A, Guerreiro R, Muehlesien T, Moebus S, Jöckel KH, Klopp N, Wichmann H, Younkin S, Carrasquillo M, Pankratz S, Holmans P, O’Donovan M, Owen MJ, Williams J.  Nat Genet 2009; 41: 1088-93.

Clinical trials and methodological problems in prion diseases - Authors' reply
Mead S, Rudge P, Hudson F, Walker S, Darbyshire J, Collinge J; for the PRION-1 investigators.
Lancet Neurol 2009; 8: 782-783.

Variant CJD in an individual heterozygous for PRNP codon 129
Kaski D, Mead S, Hyare H, Cooper S, Jampana R, Overell J, Knight R, Collinge J, Rudge P.  Lancet 2009; 374: 2128.

A novel protective prion protein variant co-localises with kuru exposure
Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Campbell T, Al-Doujaily H, Hummerich H, Beck J, Mein C, Verzilli C, Whittaker J, Alpers M, Collinge J. N Engl J Med 2009; 361: 2056-65.

Shadoo (Sprn) and prion disease incubation time in mice
Lloyd SE, Grizenkova J, Pota H, Collinge J.  Mamm Genome 2009; 20: 367-74.

Conformational properties of beta -PrP
Hosszu LL, Trevitt CR, Jones S, Batchelor M, Scott DJ, Jackson GS, Collinge J, Waltho JP, Clarke AR.  J Biol Chem 2009; 284: 21981-90.

Folding kinetics of the human prion protein probed by temperature jump.
Hart T, Hosszu LL, Trevitt CR, Jackson GS, Waltho JP, Collinge J, Clarke AR.
Proc Natl Acad Sci USA 2009; 106: 5651-6.

Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation
Rohrer JD, Beck J, Warren JD, Revesz T, Holton J, Collinge J, Warrington EK, Mead S.
J Neurol Neurosurg Psychiatry 2009; 80: 1297-8.

Safety and efficacy of quinacrine in human prion disease (PRION-1 study): a patientpreference trial.
Collinge J, Gorham M, Hudson F, Kennedy A, Keogh G, Pal S, Rossor M, Rudge P, Siddique D, Syper M, Thomas D, Walker S, Webb T, Wroe S, Darbyshire J.  Lancet Neurol 2009; 8: 334-44.

Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins
Asante EA, Gowland I, Grimshaw A, Linehan JM, Smidak M, Houghton R, Osiguwa O, Tomlinson A, Joiner S, Brandner S, Wadsworth JD, Collinge J.  J Gen Virol 2009; 90: 546-58.

A role of cellular prion protein in programming T-cell cytokine responses in disease
Ingram RJ, Isaacs JD, Kaur G, Lowther DE, Reynolds CJ, Boyton RJ, Collinge J, Jackson GS, Altmann DM.  FASEB J 2009; 23: 1672-84.

Unswitched immunoglobulin M response prolongs mouse survival in prion disease
Tayebi M, Collinge J, Hawke S.  J Gen Virol 2009; 90: 777-82.

Crystal structure of human prion protein bound to a therapeutic antibody
Antonyuk SV, Trevitt CR, Strange RW, Jackson GS, Sangar D, Batchelor M, Cooper S, Fraser C, Jones S, Georgiou T, Khalili-Shirazi A, Clarke AR, Hasnain SS, Collinge J. Proc Natl Acad Sci USA 2009; 106: 2554-8.

Highly sensitive, quantitative cell-based assay for prions adsorbed to solid surfaces
Edgeworth JA, Jackson GS, Clarke AR, Weissmann C, Collinge J.  Proc Natl Acad Sci USA 2009; 106: 3479-83.

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM.  Neurobiol Aging 2009; 30: 656-65

Seven year discordance in age at onset in monozygotic twins with inherited prion disease (P102L)
Webb T, Mead S, Beck J, Uphill J, Pal S, Hampson S, Wadsworth JD, Mena ID, O'Malley C, Brandner S, Schapira A, Wroe S, Collinge J.  Neuropathol Appl Neurobiol 2009; 35: 427-32.

Corticobasal syndrome associated with a novel 1048_1049insG proganulin mutation
J D Rohrer, J Beck, D Warren, King, Al Sarraj, Holton, Revesz, J Collinge,  S Mead  J Neurol Neuorsurg Pyschiatry 2009;80:1297-8

Age of onset and death in inherited prion disease are heritable
Webb TE, Whittaker J, Collinge J, Mead S. Am J Med Genet B Neuropsychiatr Genet. 2009; 5: 496-501

Human Prion Diseases
Collinge J. Principles & Practice of Clinical Virology, 6th edn 2009

Prion disease. In: Gelder MG, Andreasen NC, Lopez-Ibor JJ, Geddes JR, eds. New Oxford Textbook of Psychiatry, 2nd edn
Collinge J.  Oxford University Press, 2009: 351-61

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration
Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn P, Mann D, Van Broeckhoven C, Pickering-Brown S.   Neurobiol Aging 2009 May 13

HECTD2 is associated with susceptibility to mouse and human prion disease
Lloyd SE, Maytham EG, Pota H, Grizenkova J, Molou E, Uphill J, Hummerich H, Whitfield J, Alpers MP, Mead S, Collinge J. PLoS Genet 2009; 5:

Preventing prion pathogenicity by targeting the cellular prion protein
Nicoll A J, Collinge J Infect Disord Drug Targets. 2009 Feb;9(1):48-57.

The role of CHMP2B in frontotemporal dementia
Urwin H, Ghazi-Noori S, Collinge J, Isaacs A. Biochem Soc Trans. 2009 Feb;37(Pt 1):208-12.

Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, Hummerich H, Verzilli C, Alpers MP, Whittaker JC, Collinge J. Lancet Neurol. 2009 Jan;8(1):57-66.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Harold D, Abraham R, Mead S, Collinge J, et al Nature Genetics 41, 1088 - 1093


Book chapters:

Methods for molecular diagnosis of human prion disease.
Wadsworth, J , Adamson G, Joiner S, Brock L, Powell C, Linehan J, Beck J, Brandner S, Mead S, Collinge J. Methods Mol. Biol 2014

In: Reference Module in Biomedical Sciences.
Wadsworth J, Collinge J. Prions of Vertebrates.  Elsevier 17-Oct-2014 doi:10.1016/B978-0-12-801238-3.02648-9.

Oxford Textbook of Clinical Neurology: Cognitive Neurology and Dementia
Mead S, Rudge P and Collinge J. In: Schott J, Hussain M,  Oxford University Press, 2014

Prion diseases of humans and animals. In: Cohen J, Powderley WG, eds. Infectious Diseases, 4th edn Mead S, Tabrizi SJ, Collinge J.  Mosby, 2009.

Molecular basis of prion diseases. In: Siegel G, Albers RW, Brady S, Price D, eds. Basic Neurochemistry 8th edn.Wadsworth JD, Collinge J. Elsevier Academic Press, Boston, USA, 2012; 872-85.

Mead S, Collinge J. Prion disease. In: Wood N, ed. Neurogenetics: A Guide for Clinicians. Cambridge University Press, Cambridge, UK, 2012; 103-120.

Lloyd S, Mead S, Collinge J. Genetics of Prion Disease. In: Houk K.N, Hunter CA, Lehn J-M, Ley SV, Olivucci M, Thiem J, Venturi M, Vogel P, Wong C-H, Wong H, Yamamoto H, Krische Michael J, eds. Topics in Current Chemistry Volume 305, Springer Press, Berlin, Germany, 2011; 1-22.

Collinge J. Creutzfeldt-Jakob disease and other prion diseases. In: O'Brien JT, Ames D, Burns A, eds. Dementia 4th edn. Hodder Arnold, London, UK, 2010; 740- 46.

Mead S, Tabrizi SJ, Collinge J. Prion diseases of humans and animals. In: Cohen J, Powderley WG, eds. Infectious Diseases, 4th edn. Mosby, 2009.

Rossor MN, Collinge J, Fox N, Howard R, Mallucci, G, Mummery C and Warren J. Cognitive impairment and dementia. In: Clarke C, Howard R, Rossor M, Shorvon S, eds. Neurology: A Queen Square Text Book. Wiley-Blackwell, Chichester, UK 2009; 245-288.

Collinge J. Prion disease. In: Gelder MG, Andreasen NC, Lopez-Ibor JJ, Geddes JR, eds. New Oxford Textbook of Psychiatry, 2nd edn. Oxford University Press, Oxford, UK 2009; 351-61.

Collinge J. Human prion diseases. In: Zuckerman A, Banatvala JE, Griffiths P, Schoub B, Mortimer P eds. Principles & Practice of Clinical Virology, 6th edn. John Wiley & Sons, Chichester UK 2009; 939-68.

MRC Prion News