List of works - John Collinge

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scientific article

TREM2 Variants in Alzheimer's Disease

scientific article published on November 14, 2012

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

A general model of prion strains and their pathogenicity

scientific article

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein

scientific article published on December 2002

Monoclonal antibodies inhibit prion replication and delay the development of prion disease

scientific article published in Nature

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

scientific article

Evidence for human transmission of amyloid-β pathology and cerebral amyloid angiopathy

scientific article

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

scientific article (publication date: 15 November 2010)

Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report.

scientific article published in December 2006

Prion propagation and toxicity in vivo occur in two distinct mechanistic phases

scientific article

Interaction between prion protein and toxic amyloid β assemblies can be therapeutically targeted at multiple sites

scientific article

Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics

scientific article

Kuru in the 21st century--an acquired human prion disease with very long incubation periods

scientific article

Disease-associated prion protein oligomers inhibit the 26S proteasome

scientific article published on April 2007

A systematic review of prion therapeutics in experimental models

scientific article published on July 2006

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

scientific article published on 21 February 2013

Molecular classification of sporadic Creutzfeldt-Jakob disease.

scientific article published in June 2003

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Amyloid beta-protein dimers rapidly form stable synaptotoxic protofibrils

scientific article

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

scientific article

Human prion protein with valine 129 prevents expression of variant CJD phenotype

scientific article published on 11 November 2004

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay

scientific article published on February 5, 2011

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

scientific article published on 29 January 2008

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Safety and efficacy of quinacrine in human prion disease (PRION-1 study): a patient-preference trial

scientific article

Detection and characterization of proteinase K-sensitive disease-related prion protein with thermolysin.

scientific article published on December 2008

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

scientific article

mGlu5 receptors and cellular prion protein mediate amyloid-β-facilitated synaptic long-term depression in vivo

scientific article

Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis

scientific article

Disease-related prion protein forms aggresomes in neuronal cells leading to caspase activation and apoptosis.

scientific article published on 12 September 2005

Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study

scientific article published on January 2009

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

scientific article published on 02 July 2013

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

scientific article

Molecular and clinical classification of human prion disease

scientific article published on January 1, 2003

Regional heterogeneity of cellular prion protein isoforms in the mouse brain

scientific article

Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein.

scientific article published on 5 April 2006

A naturally occurring variant of the human prion protein completely prevents prion disease.

scientific article

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

scientific article published on 22 October 2007

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry

scientific article

Amyloid-β nanotubes are associated with prion protein-dependent synaptotoxicity.

scientific article published on January 2013

Subclinical prion infection.

scientific article published on December 2003

Chronic wasting disease prions are not transmissible to transgenic mice overexpressing human prion protein

scientific article

Prion neuropathology follows the accumulation of alternate prion protein isoforms after infective titre has peaked.

scientific article

Update on human prion disease.

scientific article published on March 2007

A novel prion disease associated with diarrhea and autonomic neuropathy

scientific article

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

scientific article

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

List of works by John Collinge

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

TREM2 Variants in Alzheimer's Disease

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

A general model of prion strains and their pathogenicity

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein

Monoclonal antibodies inhibit prion replication and delay the development of prion disease

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Evidence for human transmission of amyloid-β pathology and cerebral amyloid angiopathy

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

Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report.

Prion propagation and toxicity in vivo occur in two distinct mechanistic phases

Interaction between prion protein and toxic amyloid β assemblies can be therapeutically targeted at multiple sites

Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics

Kuru in the 21st century--an acquired human prion disease with very long incubation periods

Disease-associated prion protein oligomers inhibit the 26S proteasome

A systematic review of prion therapeutics in experimental models

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Molecular classification of sporadic Creutzfeldt-Jakob disease.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Amyloid beta-protein dimers rapidly form stable synaptotoxic protofibrils

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

Human prion protein with valine 129 prevents expression of variant CJD phenotype

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

Frontotemporal dementia and its subtypes: a genome-wide association study

Safety and efficacy of quinacrine in human prion disease (PRION-1 study): a patient-preference trial

Detection and characterization of proteinase K-sensitive disease-related prion protein with thermolysin.

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

mGlu5 receptors and cellular prion protein mediate amyloid-β-facilitated synaptic long-term depression in vivo

Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis

Disease-related prion protein forms aggresomes in neuronal cells leading to caspase activation and apoptosis.

Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

Molecular and clinical classification of human prion disease

Regional heterogeneity of cellular prion protein isoforms in the mouse brain

Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein.

A naturally occurring variant of the human prion protein completely prevents prion disease.

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry

Amyloid-β nanotubes are associated with prion protein-dependent synaptotoxicity.

Subclinical prion infection.

Chronic wasting disease prions are not transmissible to transgenic mice overexpressing human prion protein

Prion neuropathology follows the accumulation of alternate prion protein isoforms after infective titre has peaked.

Update on human prion disease.

A novel prion disease associated with diarrhea and autonomic neuropathy

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease