Neuropathology and Applied Neurobiology

Article	Citations
Invited Review: The spectrum of neuropathology in COVID‐19	91
Intracerebral endotheliitis and microbleeds are neuropathological features of COVID‐19	86
Brain tumour diagnostics using a DNA methylation‐based classifier as a diagnostic support tool	56
Dysfunction of the blood–brain barrier in Alzheimer's disease: Evidence from human studies	50
Neuropathological findings in two patients with fatal COVID‐19	50
Peripheral inflammation exacerbates α‐synuclein toxicity and neuropathology in Parkinson's models	47
Systematic review of human post‐mortem immunohistochemical studies and bioinformatics analyses unveil the complexity of astrocyte reaction in Alzheimer's disease	37
NLRP3 inflammasome and endoplasmic reticulum stress in the epileptogenic zone in temporal lobe epilepsy: molecular insights into their interdependence	32
Classification of diseases with accumulation of Tau protein	31
Loss of the metabolism and sleep regulating neuronal populations expressing orexin and oxytocin in the hypothalamus in amyotrophic lateral sclerosis	31
Deep learning‐based model for diagnosing Alzheimer's disease and tauopathies	30
Cell senescence in neuropathology: A focus on neurodegeneration and tumours	30
A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma‐like features and Nuclear Clusters (DGONC)	27
Identification of intraneuronal amyloid beta oligomers in locus coeruleus neurons of Alzheimer’s patients and their potential impact on inhibitory neurotransmitter receptors and neuronal excitability	24
Distinct brain‐derived TDP‐43 strains from FTLD‐TDP subtypes induce diverse morphological TDP‐43 aggregates and spreading patterns in vitro and in vivo	23
White matter alterations in Alzheimer’s disease without concomitant pathologies	22
Impaired brain insulin signalling in Parkinson's disease	21
Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies	21
CTNNB1 mutations are clonal in adamantinomatous craniopharyngioma	21
STochastic Optical Reconstruction Microscopy (STORM) reveals the nanoscale organization of pathological aggregates in human brain	21
MRI and pathology correlations in the medulla in sudden unexpected death in epilepsy (SUDEP): a postmortem study	20
Machine learning‐based decision tree classifier for the diagnosis of progressive supranuclear palsy and corticobasal degeneration	20
A polyphenotypic malignant paediatric brain tumour presenting a MN1‐PATZ1 fusion, no epigenetic similarities with CNS High‐Grade Neuroepithelial Tumour with MN1 Alteration (CNS HGNET‐MN1	19
Review: Microglia in motor neuron disease	19
N‐terminal heterogeneity of parenchymal and vascular amyloid‐β deposits in Alzheimer’s disease	19

A systems‐level analysis highlights microglial activation as a modifying factor in common epilepsies	19
Novel clinicopathological characteristics differentiate dementia with Lewy bodies from Parkinson’s disease dementia	18
Invited Review – Understanding cause and effect in Alzheimer's pathophysiology: Implications for clinical trials	18
Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families	18
Correlations in post‐mortem imaging‐histopathology studies of sporadic human cerebral small vessel disease: A systematic review	18
Hippocampal subfield pathologic burden in Lewy body diseases vs. Alzheimer’s disease	18
Differential brain region‐specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey‐white matter variation	17
TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis	17
Novel CAPN3 variant associated with an autosomal dominant calpainopathy	17
Plectin dysfunction in neurons leads to tau accumulation on microtubules affecting neuritogenesis, organelle trafficking, pain sensitivity and memory	16
Neutrophil extracellular traps (NETs) infiltrate haematoma and surrounding brain tissue after intracerebral haemorrhage: A post‐mortem study	16
Olfactory bulb SARS‐CoV‐2 infection is not paralleled by the presence of virus in other central nervous system areas	16
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature	15
Spinal manifestations of CLN1 disease start during the early postnatal period	15
Molecular pathophysiology of human MICU1 deficiency	15
Vimentin citrullination probed by a novel monoclonal antibody serves as a specific indicator for reactive astrocytes in neurodegeneration	15
Signs of early cellular dysfunction in multiple system atrophy	15
Neurodegenerative movement disorders: An epigenetics perspective and promise for the future	14
The autophagy‐enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado–Joseph disease	14
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy	14
A rare case of paediatric astroblastoma with concomitant MN1‐GTSE1 and EWSR1‐PATZ1 gene fusions altering management	14
Non‐coding regulatory elements: Potential roles in disease and the case of epilepsy	14
The S1PR2‐CCL2‐BDNF‐TrkB pathway mediates neuroinflammation and motor incoordination in hyperammonaemia	14
Robust methylation‐based classification of brain tumours using nanopore sequencing	14
Necrosome‐positive granulovacuolar degeneration is associated with TDP‐43 pathological lesions in the hippocampus of ALS/FTLD cases	14
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency	13
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain	13
Lipid alterations in human frontal cortex in ALS‐FTLD‐TDP43 proteinopathy spectrum are partly related to peroxisome impairment	13
Expression pattern of perilipins in human brain during aging and in Alzheimer's disease	12
The molecular landscape and associated clinical experience in infant medulloblastoma: prognostic significance of second‐generation subtypes	12
MiR‐142‐3p regulates synaptopathy‐driven disease progression in multiple sclerosis	12
Accurate calling of KIAA1549‐BRAF fusions from DNA of human brain tumours using methylation array‐based copy number and gene panel sequencing data	12
Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration	12
Significance of cytosolic cathepsin D in Alzheimer's disease pathology: Protective cellular effects of PLGA nanoparticles against β‐amyloid‐toxicity	12
RAPGEF2 mediates oligomeric Aβ‐induced synaptic loss and cognitive dysfunction in the 3xTg‐AD mouse model of Alzheimer’s disease	12
G protein‐coupled receptor kinases are associated with Alzheimer's disease pathology	12
L‐DOPA regulates α‐synuclein accumulation in experimental parkinsonism	11
Concomitant LATE‐NC in Alzheimer's disease is not associated with increased tau or amyloid‐β pathological burden	11
Tumour‐associated CD204+ microglia/macrophages accumulate in perivascular and perinecrotic niches and correlate with an interleukin‐6‐enriched inflammatory profile in glioblastoma	11
DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours: A prospective population‐based study	11
Faster disease progression in Parkinson’s disease with type 2 diabetes is not associated with increased α‐synuclein, tau, amyloid‐β or vascular pathology	11
Balloon cells promote immune system activation in focal cortical dysplasia type 2b	11
Protein homeostasis in LGMDR9 (LGMD2I) – The role of ubiquitin–proteasome and autophagy–lysosomal system	11
Global microRNA profiling identified miR‐10b‐5p as a regulator of neurofibromatosis 1 (NF1)‐glioma migration	10
CD47 promotes the proliferation and migration of adamantinomatous craniopharyngioma cells by activating the MAPK/ERK pathway, and CD47 blockade facilitates microglia‐mediated phagocytosis	10
Emerging roles for the YAP/TAZ transcriptional regulators in brain tumour pathology and targeting options	10
Heterozygous APOE Christchurch in familial Alzheimer’s disease without mutations in other Mendelian genes	10
HnRNP K mislocalisation in neurons of the dentate nucleus is a novel neuropathological feature of neurodegenerative disease and ageing	10
The prognostic significance of clinicopathological features in meningiomas: Microscopic brain invasion can predict patient outcome in otherwise benign meningiomas	10
Arteriolar neuropathology in cerebral microvascular disease	10

Old age genetically confirmed frontotemporal lobar degeneration with TDP‐43 has limbic predominant TDP‐43 deposition	10
Invited Review – A 5‐year update on epigenome‐wide association studies of DNA modifications in Alzheimer’s disease: progress, practicalities and promise	10
Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies	10
Telomeric alterations in the default mode network during the progression of Alzheimer’s disease: Selective vulnerability of the precuneus	9
MOBP and HIP1 in multiple system atrophy: New α‐synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis	9
Irisin treatment lowers levels of phosphorylated tau in the hippocampus of pre‐symptomatic female but not male htau mice	9
Cauda equina paragangliomas express HOXB13	9
Myositis with sarcoplasmic inclusions in Nakajo–Nishimura syndrome: a genetic inflammatory myopathy	9
BRAIN UK: Accessing NHS tissue archives for neuroscience research	9
Targeted next‐generation sequencing of adult gliomas for retrospective prognostic evaluation and up‐front diagnostics	9
Neuron types in the primate striatum: Stereological analysis of projection neurons and interneurons in control and parkinsonian monkeys	9
Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle	9
ALK‐rearranged histiocytosis: Report of two cases with involvement of the central nervous system	9
Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta‐analysis based on a Cochrane systematic review	9
Seizure activity and brain damage in a model of focal non‐convulsive status epilepticus	9
Sex differences in the neuropathological hallmarks of Alzheimer’s disease: focus on cognitively intact elderly individuals	9
AKT1E17K‐mutated meningioma cell lines respond to treatment with the AKT inhibitor AZD5363	8
Capillary pathology with prominent basement membrane reduplication is the hallmark histopathological feature of scleromyositis	8
The blood–CSF–brain route of neurological disease: The indirect pathway into the brain	8
The desmin mutation R349P increases contractility and fragility of stem cell‐generated muscle micro‐tissues	8
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis	8
Systemic delivery of human GlyR IgG antibody induces GlyR internalization into motor neurons of brainstem and spinal cord with motor dysfunction in mice	8
Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics	8
Characterisation of early ultrastructural changes in the cerebral white matter of CADASIL small vessel disease using high‐pressure freezing/freeze‐substitution	8
Post‐treatment hypermutation in a recurrent diffuse glioma with H3.3 p.G34 Mutation	8
Brain TDP‐43 pathology in corticobasal degeneration: Topographical correlation with neuronal loss	8
Neuropathology of genetically defined malformations of cortical development—A systematic literature review	8
Potent T cell‐mediated anti‐inflammatory role of the selective CB2 agonist lenabasum in multiple sclerosis	8
Implementation of TERT promoter mutations improve prognostication of the WHO classification in meningioma	8
Concurrent tau pathologies in frontotemporal lobar degeneration with TDP‐43 pathology	8
Prodromal sensory neuropathy in Pink1−/−SNCAA53T double mutant Parkinson mice	8
Morphological differences between dementia with Lewy bodies and Parkinson's disease‐dementia	7
Ataxic phenotype and neurodegeneration are triggered by the impairment of chaperone‐mediated autophagy in cerebellar neurons	7
Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome	7
Blinded review of hippocampal neuropathology in sudden unexplained death in childhood reveals inconsistent observations and similarities to explained paediatric deaths	7
Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies	7
Extracellular tau oligomers affect extracellular glutamate handling by astrocytes through downregulation of GLT‐1 expression and impairment of NKA1A2 function	7
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative	7
Pathological substrate of memory impairment in multiple system atrophy	7
Expression, prognostic significance and therapeutic implications of PD‐L1 in gliomas	7
The severity of behavioural symptoms in FTD is linked to the loss of GABRQ‐expressing VENs and pyramidal neurons	7
Cutaneous sensory and autonomic denervation in progressive supranuclear palsy	7
Gonadotroph tumours with a low SF‐1 labelling index are more likely to recur and are associated with enrichment of the PI3K‐AKT pathway	7
Anaplastic ganglioglioma—A diagnosis comprising several distinct tumour types	7
Microglial contribution to synaptic uptake in the prefrontal cortex in schizophrenia	7
Alpha adaptins show isoform‐specific association with neurofibrillary tangles in Alzheimer's disease	6
Live‐imaging of revertant and therapeutically restored dystrophin in the DmdEGFP‐mdx mouse model for Duchenne muscular dystrophy	6
Primary papillary epithelial tumour of the sella: expanding the spectrum of TTF‐1‐positive sellar lesions	6
Early changes in visuospatial episodic memory can help distinguish primary age‐related tauopathy from Alzheimer’s disease	6
Spatial molecular profiling of a central nervous system low‐grade diffusely infiltrative tumour with INI1 deficiency featuring a high‐grade atypical teratoid/rhabdoid tumour component	6
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages	6
An autopsy case of pure nigropathy with TUBA4A nonsense mutation	6
Combinatorial model of amyloid β and tau reveals synergy between amyloid deposits and tangle formation	6
Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis	6
TGF‐β activates pericytes via induction of the epithelial‐to‐mesenchymal transition protein SLUG in glioblastoma	6
A spontaneous missense mutation in the chromodomain helicase DNA‐binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome	6
Genetic knockdown of Klk8 has sex‐specific multi‐targeted therapeutic effects on Alzheimer’s pathology in mice	6
CircRNA SRRM4 affects glucose metabolism by regulating PKM alternative splicing via SRSF3 deubiquitination in epilepsy	6
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion	6
Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model	6
The contribution of brain banks to knowledge discovery in amyotrophic lateral sclerosis: A systematic review	6
Rosette‐forming glioneuronal tumours are midline, FGFR1‐mutated tumours	6
Met166‐Glu168 residues in human PrP β2‐α2 loop account for evolutionary resistance to prion infection	6
Pathogenic variants of Valosin‐containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells	5
Low‐grade epilepsy‐associated neuroepithelial tumours with a prominent oligodendroglioma‐like component: The diagnostic challenges	5
Primary age‐related tauopathy in a Finnish population‐based study of the oldest old (Vantaa 85+)	5
Low‐grade diffusely infiltrative tumour (LGDIT), SMARCB1‐mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT‐MYC	5
Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome	5
Caspase‐6‐cleaved tau is relevant in Alzheimer's disease and marginal in four‐repeat tauopathies: Diagnostic and therapeutic implications	5
A simple novel approach for detecting blood–brain barrier permeability using GPCR internalization	5
Cytoplasmic HDAC4 recovers synaptic function in the 3×Tg mouse model of Alzheimer's disease	5
Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway	5
Paediatric astroblastoma‐like neuroepithelial tumour of the spinal cord with a MAMLD1‐BEND2 rearrangement	5
GAB1 overexpression identifies hedgehog‐activated anterior skull base meningiomas	5
Intrathecal amyloid‐beta oligomer administration increases tau phosphorylation in the medial temporal lobe in the African green monkey: A nonhuman primate model of Alzheimer's disease	5
Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue	5
Optimised tissue clearing minimises distortion and destruction during tissue delipidation	5
Cortical morphometric vulnerability to generalised epilepsy reflects chromosome‐ and cell type‐specific transcriptomic signatures	5
Novel naturally occurring autoantibodies attenuate α‐synuclein pathology in a mouse model of Parkinson's disease	4
Identification of the calpain‐generated toxic fragment of ataxin‐3 protein provides new avenues for therapy of Machado–Joseph disease| Spinocerebellar ataxia type 3	4

The molecular characteristics of low‐grade and high‐grade areas in desmoplastic infantile astrocytoma/ganglioglioma	4
Treatment with the copper compound CuATSM has no significant effect on motor neuronal pathology in patients with ALS	4
Early loss of locus coeruleus innervation promotes cognitive and neuropathological changes before amyloid plaque deposition in a transgenic rat model of Alzheimer's disease	4
Distinguishing post‐translational modifications in dominantly inherited frontotemporal dementias: FTLD‐TDP Type A (GRN) vs Type B (C9orf72)	4
Interfering with lysophosphatidic acid receptor edg2/lpa1 signalling slows down disease progression in SOD1‐G93A transgenic mice	4
MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis	4
Nanoscale reorganisation of synaptic proteins in Alzheimer's disease	4
Linking epigenetic signature and metabolic phenotype in IDH mutant and IDH wildtype diffuse glioma	4
Absence of tissue transglutaminase reduces amyloid‐beta pathology in APP23 mice	4
Axonal response of mitochondria to demyelination and complex IV activity within demyelinated axons in experimental models of multiple sclerosis	4
Novel autophagic vacuolar myopathies: Phenotype and genotype features	4
IDH clonal heterogeneity segregates a subgroup of non‐1p/19q codeleted gliomas with unfavourable clinical outcome	4
Myeloid cell subpopulations compensate each other for Ccr2‐deficiency in glioblastoma	4
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease	4
CD8 T‐cell‐mediated cerebellitis directed against Purkinje cell antigen after ipilimumab for small cell lung cancer	3
Unveiling the identities of null cell tumours: Epigenomics corroborate subtle histological cues in pituitary neuroendocrine tumour/adenoma classification	3
The interaction of insoluble Amyloid‐β with soluble Amyloid‐β dimers decreases Amyloid‐β plaque numbers	3
Lack of difference between amyloid‐beta burden at gyral crests and sulcal depths in diverse neurodegenerative diseases	3
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment	3
Review: Protein misfolding diseases – the rare case of Marinesco‐Sjögren syndrome	3
The analysis of epidermal nerve fibre spatial distribution improves the diagnostic yield of skin biopsy	3
The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases	3
CuII(atsm) significantly decreases microglial reactivity in patients with sporadic amyotrophic lateral sclerosis	3
Long‐standing multiple system atrophy‐Parkinsonism with limbic and FTLD‐type α‐synuclein pathology	3
m6A mRNA methylation in human brain is disrupted in Lewy body disorders	3
TDP‐43 proteinopathy occurs independently of autophagic substrate accumulation and underlies nuclear defects in Niemann‐Pick C disease	3
What to do with unusual TDP‐43 proteinopathy cases?	3
Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP‐43 inclusions and ageing‐related tau astrogliopathy in a family with a GBE1 mutation	3
Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy	3
MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1	3
N471D WASH complex subunit strumpellin knock‐in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue	3
Atypical astroglial pTDP‐43 pathology in astroglial predominant tauopathy	3
Novel therapeutic targets in epilepsy: oxidative stress and iron metabolism	3
Hippocampal subfield pathologic Burden in Lewy body diseases versus Alzheimer’s disease	3
Target formation in muscle fibres indicates reinnervation – A proteomic study in muscle samples from peripheral neuropathies	2
Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel–Lindau disease‐related tumours	2
Muscle biopsy practices in the evaluation of neuromuscular disease: A systematic literature review	2
Time to focus on circulating nucleic acids for diagnosis and monitoring of gliomas: A systematic review of their role as biomarkers	2
Comprehensive analysis of intratumoural heterogeneity of somatic copy number alterations in diffuse glioma reveals clonality‐dependent prognostic patterns	2
Is leucodystrophy really a feature of PIGT‐CDG?	2
Image‐based deep learning reveals the responses of human motor neurons to stress and VCP‐related ALS	2
A gene dosage‐dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH‐medulloblastoma	2
Past antihypertensive medication use is associated with lower levels of small vessel disease and lower Aβ plaque stage in the brains of older individuals	2
TAPPing into the potential of inducible tau/APP transgenic mice	2
Neurotherapeutic implications of sense and respond strategies generated by astrocytes and astrocytic tumours to combat pH mechanical stress	2
Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis	2
Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason	2
Different patterns of hippocampal subfield pathology in Lewy body disease and Alzheimer's disease	2
Genetic inhibition of PDK1 robustly reduces plaque deposition and ameliorates gliosis in the 5×FAD mouse model of Alzheimer's disease	2
Progressive hemispheric atrophy in HIV: A Rasmussen's‐like variant of CD8 encephalitis?	2
WNT‐activated, MYC‐amplified medulloblastoma displaying intratumoural heterogeneity	2
Parkinsonism in C9orf72 expansion without co‐existing Lewy body pathology; a case report and review of the literature	2
Dysregulation of miR‐543 in Parkinson's disease: Impact on the neuroprotective gene SIRT1	2