List of works by Claire Troakes

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

scientific article

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders

scientific article

A cross-brain regions study of ANK1 DNA methylation in different neurodegenerative diseases

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

scientific article published on 01 October 2018

A histone acetylome-wide association study of Alzheimer's disease identifies disease-associated H3K27ac differences in the entorhinal cortex

scientific article published on 22 October 2018

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

scientific article published on 20 April 2016

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

scientific article published on 7 March 2013

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

scientific article published on 9 October 2015

APOE ε4 is also required in TREM2 R47H variant carriers for Alzheimer's disease to develop.

scientific article published on 7 February 2018

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Abnormal TDP-43 expression is identified in the neocortex in cases of dementia pugilistica, but is mainly confined to the limbic system when identified in high and moderate stages of Alzheimer's disease

scientific article published on 19 January 2010

Accuracy of the National Institute for Neurological Disorders and Stroke/Society for Progressive Supranuclear Palsy and neuroprotection and natural history in Parkinson plus syndromes criteria for the diagnosis of progressive supranuclear palsy

scientific article published on 21 February 2013

Agonist and antagonist bind differently to 5-HT1A receptors during Alzheimer's disease: A post-mortem study with PET radiopharmaceuticals

scientific article published on 13 May 2016

Aluminium in brain tissue in familial Alzheimer's disease

scientific article

Alzheimer's disease susceptibility variants in the MS4A6A gene are associated with altered levels of MS4A6A expression in blood

scientific article published on 21 September 2013

Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss

scientific article

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

scientific article published on 19 May 2017

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

scientific article

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

scientific article

Analysis of TDP-43 and its binding partners in neurodegenerative diseases.

scientific article

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Anxiety behaviour of the male rat on the elevated plus maze: associated regional increase in c-fos mRNA expression and modulation by early maternal separation

scientific article published in July 2009

Assessment of the degree of asymmetry of pathological features in neurodegenerative diseases. What is the significance for brain banks?

scientific article

Aβ efflux impairment and inflammation linked to cerebrovascular accumulation of amyloid-forming amylin secreted from pancreas

scientific article published in 2023

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

scientific article

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

scientific article published on 20 July 2019

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

scientific article published on 13 September 2017

Changes in the expression of genes related to neuroinflammation over the course of sporadic Alzheimer's disease progression: CX3CL1, TREM2, and PPARγ.

scientific article published on 18 January 2015

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

scientific article

Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria

scientific article published on 3 May 2017

Clusterin expression is upregulated following acute head injury and localizes to astrocytes in old head injury

scientific article published in July 2016

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

scientific article

Comparison of clinical and neuropathological diagnoses of neurodegenerative diseases in two centres from the Brains for Dementia Research (BDR) cohort

scientific article published on 07 February 2019

Comparison of the neurokinin-1 antagonist GR205171, alone and in combination with the 5-HT3 antagonist ondansetron, hyoscine and placebo in the prevention of motion-induced nausea in man.

scientific article

Compromised paraspeckle formation as a pathogenic factor in FUSopathies

scientific article

Control tissue in brain banking: the importance of thorough neuropathological assessment

scientific article published on 12 February 2015

Cross-region reduction in 5-hydroxymethylcytosine in Alzheimer's disease brain.

scientific article

Cyclin-dependent kinase 5 activator p25 is generated during memory formation and is reduced at an early stage in Alzheimer's disease

scientific article published on 26 May 2011

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

scientific article published on 25 June 2015

Distribution patterns of tau pathology in progressive supranuclear palsy

scientific article published on 07 May 2020

Early life adversity programs changes in central 5-HT neuronal function in adulthood

scientific article published on June 2003

Effects of antemortem and postmortem variables on human brain mRNA quality: a BrainNet Europe study

scientific article published in January 2010

Effects of cis-regulatory variation differ across regions of the adult human brain

scientific article published on 9 September 2010

Elevated DNA methylation across a 48-kb region spanning the HOXA gene cluster is associated with Alzheimer's disease neuropathology

article

Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease

scientific article

Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weight

scientific article (publication date: February 2012)

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain

scientific article

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article

Erratum to: Variation in 5-hydroxymethylcytosine across human cortex and cerebellum

scientific article published on 17 June 2016

Evidence that the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease

scientific article published on 29 January 2015

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

scientific article

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic

scientific article published on 13 September 2013

Extended post-mortem delay times should not be viewed as a deterrent to the scientific investigation of human brain tissue: a study from the Brains for Dementia Research Network Neuropathology Study Group, UK.

scientific article published on 15 September 2016

Frequency and signature of somatic variants in 1461 human brain exomes

scientific article published on 14 September 2018

Functional annotation of the human brain methylome identifies tissue-specific epigenetic variation across brain and blood

scientific article

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

scientific article

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

scientific article published on 21 December 2016

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

scientific article published on 15 February 2021

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

scientific article published in March 2018

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue

scientific article published on 01 July 2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain

scientific article published on 22 March 2016

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

scientific article published on 04 June 2019

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

scientific article

How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy

scientific article published on 18 March 2019

In vitro prion-like behaviour of TDP-43 in ALS.

scientific article published on 30 August 2016

Increased plasma neurofilament light chain concentration correlates with severity of post-mortem neurofibrillary tangle pathology and neurodegeneration

scholarly article by Nicholas J Ashton et al published 9 January 2019 in Acta neuropathologica communications

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

scientific article

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

scientific article published on 16 December 2017

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

scientific article

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease.

scientific article published on 9 October 2015

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

scientific article published on 2 February 2018

Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci

scientific article

Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease

scientific article

Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia

scientific article

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article published on 02 February 2017

Mixed brain pathologies in dementia: the BrainNet Europe consortium experience

scientific article published on 10 October 2008

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

scientific article published on 28 September 2012

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

scientific article published on 5 November 2015

Neuron-specific alterations in signal transduction pathways associated with Alzheimer's disease

scientific article

Neuron-specific mitochondrial DNA deletion levels in sporadic Alzheimer's disease

scientific article

Neuropathology of the hippocampus in FTLD-Tau with Pick bodies: a study of the BrainNet Europe Consortium.

scientific article published on February 2013

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

scientific article

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

scientific article

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

scientific article published on 13 January 2018

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients

scientific article

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

scientific article published on 01 March 2011

Parallel profiling of DNA methylation and hydroxymethylation highlights neuropathology-associated epigenetic variation in Alzheimer's disease

scientific article published on 21 March 2019

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Prostate-derived sterile 20-like kinases (PSKs/TAOKs) phosphorylate tau protein and are activated in tangle-bearing neurons in Alzheimer disease

scientific article published on 12 April 2013

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport

scientific journal article

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

scientific article published on 25 February 2016

Schizophrenia is associated with dysregulation of a Cdk5 activator that regulates synaptic protein expression and cognition

scientific article

Schizophrenia-associated methylomic variation: molecular signatures of disease and polygenic risk burden across multiple brain regions

scientific article published on 22 December 2016

Simulated surgical-type cerebral biopsies from post-mortem brains allows accurate neuropathological diagnoses in the majority of neurodegenerative disease groups

scientific article published on 19 August 2013

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

scientific article published on 19 February 2015

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

scholarly article by Soragia Athina Gkazi et al published 24 August 2018 in Neurobiology of Aging

Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity

scientific article published on 12 December 2019

TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's syndrome: association with age, hippocampal sclerosis and clinical phenotype

scientific article

Tau deposition patterns are associated with functional connectivity in primary tauopathies

scientific article published on 15 March 2022

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.

scientific article published on 13 July 2015

The Identification of Aluminum in Human Brain Tissue Using Lumogallion and Fluorescence Microscopy

scientific article published on 29 July 2016

The Psychiatric Risk Gene NT5C2 Regulates Adenosine Monophosphate-Activated Protein Kinase Signaling and Protein Translation in Human Neural Progenitor Cells

scientific article published on 30 March 2019

The genetics and neuropathology of amyotrophic lateral sclerosis

scientific article published on 02 August 2012

The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases

scientific article published on 5 November 2014

Tissue-specific patterns of allelically-skewed DNA methylation

scientific article published on 19 January 2016

Transcriptomic analysis of probable asymptomatic and symptomatic alzheimer brains

scientific article published on 04 May 2019

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS i

scientific article published in August 2013

Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43

scientific article published on 01 December 2010

Unusual neuropathological features and increased brain aluminium in a resident of Camelford, UK.

scientific article

Upregulation of calpain activity precedes tau phosphorylation and loss of synaptic proteins in Alzheimer's disease brain

scientific article published on 31 March 2016

Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies

scientific article published on 30 September 2019

Variation in 5-hydroxymethylcytosine across human cortex and cerebellum.

scientific article published on 16 February 2016

Which ante mortem clinical features predict progressive supranuclear palsy pathology?

scientific article published on 13 May 2017

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

scientific article published on 19 November 2011

Paulina is supported by:

About Paulina

Help