| Q35206942 | A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies |
| Q40441127 | A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders |
| Q59544747 | A cross-brain regions study of ANK1 DNA methylation in different neurodegenerative diseases |
| Q58698146 | A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration |
| Q57804842 | A histone acetylome-wide association study of Alzheimer's disease identifies disease-associated H3K27ac differences in the entorhinal cortex |
| Q37257506 | ABCA7 p.G215S as potential protective factor for Alzheimer's disease |
| Q36908224 | ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules |
| Q42003982 | ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation |
| Q50145354 | APOE ε4 is also required in TREM2 R47H variant carriers for Alzheimer's disease to develop. |
| Q37635857 | ATXN2 trinucleotide repeat length correlates with risk of ALS. |
| Q48332804 | 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 |
| Q38084252 | 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 |
| Q38866764 | Agonist and antagonist bind differently to 5-HT1A receptors during Alzheimer's disease: A post-mortem study with PET radiopharmaceuticals |
| Q38980286 | Aluminium in brain tissue in familial Alzheimer's disease |
| Q46768695 | Alzheimer's disease susceptibility variants in the MS4A6A gene are associated with altered levels of MS4A6A expression in blood |
| Q27303472 | Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss |
| Q38773599 | Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain |
| Q42499208 | 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. |
| Q45971950 | Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. |
| Q55049970 | Analysis of TDP-43 and its binding partners in neurodegenerative diseases. |
| Q93036329 | Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies |
| Q50766464 | 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. |
| Q48155425 | Assessment of the degree of asymmetry of pathological features in neurodegenerative diseases. What is the significance for brain banks? |
| Q124866086 | Aβ efflux impairment and inflammation linked to cerebrovascular accumulation of amyloid-forming amylin secreted from pancreas |
| Q34500097 | Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72 |
| Q92051893 | C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy |
| Q47707045 | C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity |
| Q48372341 | Changes in the expression of genes related to neuroinflammation over the course of sporadic Alzheimer's disease progression: CX3CL1, TREM2, and PPARγ. |
| Q34028511 | Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration |
| Q38807324 | Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria |
| Q48646921 | Clusterin expression is upregulated following acute head injury and localizes to astrocytes in old head injury |
| Q30434949 | Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions |
| Q64298252 | Comparison of clinical and neuropathological diagnoses of neurodegenerative diseases in two centres from the Brains for Dementia Research (BDR) cohort |
| Q36055217 | 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. |
| Q35066217 | Compromised paraspeckle formation as a pathogenic factor in FUSopathies |
| Q35837651 | Control tissue in brain banking: the importance of thorough neuropathological assessment |
| Q33788686 | Cross-region reduction in 5-hydroxymethylcytosine in Alzheimer's disease brain. |
| Q51007134 | Cyclin-dependent kinase 5 activator p25 is generated during memory formation and is reduced at an early stage in Alzheimer's disease. |
| Q35776562 | 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. |
| Q94556849 | Distribution patterns of tau pathology in progressive supranuclear palsy |
| Q42443261 | Early life adversity programs changes in central 5-HT neuronal function in adulthood |
| Q48379280 | Effects of antemortem and postmortem variables on human brain mRNA quality: a BrainNet Europe study |
| Q35819825 | Effects of cis-regulatory variation differ across regions of the adult human brain |
| Q57936358 | Elevated DNA methylation across a 48-kb region spanning the HOXA gene cluster is associated with Alzheimer's disease neuropathology |
| Q33840151 | Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease |
| Q28730353 | Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weight |
| Q34000427 | Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain |
| Q42071897 | Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains |
| Q42593505 | Erratum to: Variation in 5-hydroxymethylcytosine across human cortex and cerebellum |
| Q43128335 | Evidence that the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease |
| Q33906470 | Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease |
| Q35906336 | Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. |
| Q45752652 | Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic |
| Q48468865 | 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. |
| Q59691133 | Frequency and signature of somatic variants in 1461 human brain exomes |
| Q36245292 | Functional annotation of the human brain methylome identifies tissue-specific epigenetic variation across brain and blood |
| Q34463167 | Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. |
| Q37548493 | Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource |
| Q112297835 | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture |
| Q51760547 | Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. |
| Q92904373 | Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue |
| Q91438011 | 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 |
| Q36595652 | Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases |
| Q28943526 | Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption |
| Q41713353 | Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain |
| Q92891314 | Heritability and genetic variance of dementia with Lewy bodies |
| Q92862267 | 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 |
| Q37503127 | Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic |
| Q64774308 | How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy |
| Q37420398 | In vitro prion-like behaviour of TDP-43 in ALS. |
| Q60912993 | Increased plasma neurofilament light chain concentration correlates with severity of post-mortem neurofibrillary tangle pathology and neurodegeneration |
| Q36036376 | Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease |
| Q47274054 | Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study |
| Q34538196 | Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease |
| Q34777870 | LRRK2 exonic variants and risk of multiple system atrophy |
| Q41880228 | Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease. |
| Q51762755 | Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. |
| Q36466426 | Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci |
| Q34433837 | Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease |
| Q34676602 | Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia |
| Q37623036 | Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains |
| Q46475063 | Mixed brain pathologies in dementia: the BrainNet Europe consortium experience |
| Q48342107 | Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant |
| Q48196904 | Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis |
| Q28277378 | NEK1 variants confer susceptibility to amyotrophic lateral sclerosis |
| Q36799853 | 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. |
| Q35066231 | Neuron-specific alterations in signal transduction pathways associated with Alzheimer's disease |
| Q35025664 | Neuron-specific mitochondrial DNA deletion levels in sporadic Alzheimer's disease |
| Q38404368 | Neuropathology of the hippocampus in FTLD-Tau with Pick bodies: a study of the BrainNet Europe Consortium. |
| Q35171073 | Novel mutations support a role for Profilin 1 in the pathogenesis of ALS. |
| Q33578925 | Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration |
| Q47563700 | Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains. |
| Q48195772 | On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients |
| Q59544757 | Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders |
| Q64064683 | Parallel profiling of DNA methylation and hydroxymethylation highlights neuropathology-associated epigenetic variation in Alzheimer's disease |
| Q53820484 | Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. |
| Q36873750 | Prostate-derived sterile 20-like kinases (PSKs/TAOKs) phosphorylate tau protein and are activated in tangle-bearing neurons in Alzheimer disease |
| Q28115707 | Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport |
| Q36616570 | Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD |
| Q28391148 | Schizophrenia is associated with dysregulation of a Cdk5 activator that regulates synaptic protein expression and cognition |
| Q37701982 | Schizophrenia-associated methylomic variation: molecular signatures of disease and polygenic risk burden across multiple brain regions |
| Q41874571 | Simulated surgical-type cerebral biopsies from post-mortem brains allows accurate neuropathological diagnoses in the majority of neurodegenerative disease groups |
| Q48266270 | Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes |
| Q57823577 | Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia |
| Q91942351 | Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity |
| Q48864196 | 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 |
| Q123986886 | Tau deposition patterns are associated with functional connectivity in primary tauopathies |
| Q36466470 | The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder |
| Q52149869 | The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. |
| Q37382883 | The Identification of Aluminum in Human Brain Tissue Using Lumogallion and Fluorescence Microscopy |
| Q92087685 | The Psychiatric Risk Gene NT5C2 Regulates Adenosine Monophosphate-Activated Protein Kinase Signaling and Protein Translation in Human Neural Progenitor Cells |
| Q38035744 | The genetics and neuropathology of amyotrophic lateral sclerosis |
| Q38265061 | The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases |
| Q36838971 | Tissue-specific patterns of allelically-skewed DNA methylation |
| Q64109490 | Transcriptomic analysis of probable asymptomatic and symptomatic alzheimer brains |
| Q48393851 | 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 |
| Q59544755 | 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 |
| Q48294969 | Unusual neuropathological features and increased brain aluminium in a resident of Camelford, UK. |
| Q36758446 | Upregulation of calpain activity precedes tau phosphorylation and loss of synaptic proteins in Alzheimer's disease brain |
| Q90393754 | Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies |
| Q38524768 | Variation in 5-hydroxymethylcytosine across human cortex and cerebellum. |
| Q38788274 | Which ante mortem clinical features predict progressive supranuclear palsy pathology? |
| Q58477808 | 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 |