Acta Neuropathologica

Article	Citations
Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD	158
Macrophages and endothelial cells in the neurovascular unit	148
A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques	148
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy	139
The proteomic landscape of glioblastoma recurrence reveals novel and targetable immunoregulatory drivers	132
Wolframin is a novel regulator of tau pathology and neurodegeneration	107
Co-registration of MALDI-MSI and histology demonstrates gangliosides co-localize with amyloid beta plaques in Alzheimer’s disease	98
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis	95
Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database	93
Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype	92
A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting	85
Identification of high-performing antibodies for the reliable detection of Tau proteoforms by Western blotting and immunohistochemistry	83
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation	79
BTK inhibition limits microglia-perpetuated CNS inflammation and promotes myelin repair	72
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility	66
Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum	65
Integrative multi-omics reveals two biologically distinct groups of pilocytic astrocytoma	64
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS	64
TDP-43 pathology in the retina of patients with frontotemporal lobar degeneration	61
Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy	60
The Alzheimer’s disease GWAS risk alleles in the ABCA7 promoter and 5’ region reduce ABCA7 expression	58
Biomarkers for parkinsonian disorders in CNS-originating EVs: promise and challenges	58
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics	57
Detection of blood–brain barrier disruption in brains of patients with COVID-19, but no evidence of brain penetration by SARS-CoV-2	55
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2	52

Even heterozygous loss of CDKN2A/B greatly accelerates recurrence in aggressive meningioma	51
TREM2 gene expression associations with Alzheimer’s disease neuropathology are region-specific: implications for cortical versus subcortical microglia	51
Tau seeding in chronic traumatic encephalopathy parallels disease severity	50
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination	50
Jorge Cervós-Navarro 1930–2021	49
Neuropathological associations of limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) differ between the oldest-old and younger-old	46
From metabolomics to proteomics: understanding the role of dopa decarboxylase in Parkinson’s disease. Scientific commentary on: “Comprehensive proteomics of CSF, plasma, and urine identify DDC and oth	45
Myeloid cell iron uptake pathways and paramagnetic rim formation in multiple sclerosis	45
Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as “Glioneuronal Tumors, NOS, Subtype A”	44
PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD	43
Expanding the spectrum of amyloid-β plaque pathology: the Down syndrome associated ‘bird-nest plaque’	42
Clinical applicability of miR517a detection in liquid biopsies of ETMR patients	41
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy	40
Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson’s disease-related fibril polymorphism	40
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy	40
Xenografted human iPSC-derived neurons with the familial Alzheimer’s disease APPV717I mutation reveal dysregulated transcriptome signatures linked to synaptic function and implicate LINGO2 as a diseas	40
Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau	40
Correction to: MET receptor serves as a promising target in melanoma brain metastases	39
White matter microglia heterogeneity in the CNS	39
DTYMK is essential for genome integrity and neuronal survival	39
A CHCHD6–APP axis connects amyloid and mitochondrial pathology in Alzheimer’s disease	39
CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease	38
Neuropathologic scales of cerebrovascular disease associated with diffusion changes on MRI	37
Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study	37
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations	37
Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses	36
Co-expression of APP/PS1 disrupts the distribution of brain lesions in a synucleinopathy transgenic mouse model (M83)	36
The variance in phosphorylated, insoluble ⍺-synuclein in humans, rats, and mice is not mainly driven by biological sex	36
Chronic traumatic encephalopathy in a female ex-professional Australian rules footballer	36
From methylation to myelination: epigenomic and transcriptomic profiling of chronic inactive demyelinated multiple sclerosis lesions	35
DGCR8 and the six hit, three-step model of schwannomatosis	35
Independent prognostic impact of DNA methylation class and chromosome 1p loss in WHO grade 2 and 3 meningioma undergoing adjuvant high-dose radiotherapy: comprehensive molecular analysis of EORTC 2204	35
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease	35
Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS	35
Distinct characteristics of limbic-predominant age-related TDP-43 encephalopathy in Lewy body disease	34
Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma	34
Clinically unfavorable transcriptome subtypes of non-WNT/non-SHH medulloblastomas are associated with a predominance in proliferating and progenitor-like cell subpopulations	34
Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change	34
Microglia and monocytes in inflammatory CNS disease: integrating phenotype and function	34
Tau seeds occur before earliest Alzheimer’s changes and are prevalent across neurodegenerative diseases	33
EZHIP: a new piece of the puzzle towards understanding pediatric posterior fossa ependymoma	33
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1	32
Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE	32
Co-pathology may impact outcomes of amyloid-targeting treatments: clinicopathological results from two patients treated with aducanumab	32
Diverse human astrocyte and microglial transcriptional responses to Alzheimer’s pathology	32
The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study	32
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis	31
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex	31
p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003	30
Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier	30

Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy	30
Disruption of the blood–brain barrier is correlated with spike endocytosis by ACE2 + endothelia in the CNS microvasculature in fatal COVID-19. Scientific commentary on "Detection of blood–brain barrie	30
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy	29
Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration	29
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD	29
Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer’s disease pathology progression	29
Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development	29
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas	29
Hemorrhagic lesion with detection of infected endothelial cells in human bornavirus encephalitis	28
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients	28
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts	28
Loss of the heterogeneous expression of flippase ATP11B leads to cerebral small vessel disease in a normotensive rat model	28
Characterisation of premature cell senescence in Alzheimer’s disease using single nuclear transcriptomics	28
Retinal pathological features and proteome signatures of Alzheimer’s disease	27
Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS	27
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1	27
Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson’s disease	27
More than meets the eye in Parkinson’s disease and other synucleinopathies: from proteinopathy to lipidopathy	27
Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas	27
Urinary tract infections trigger synucleinopathy via the innate immune response	26
Transmission experiments verify sporadic V2 prion in a patient with E200K mutation	26
Oncostatin M triggers brain inflammation by compromising blood–brain barrier integrity	25
“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade	25
DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma	25
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival	25
Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification	25
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas	25
Ferroptosis inhibitor improves outcome after early and delayed treatment in mild spinal cord injury	25
DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease	24
Neuropathology of central nervous system involvement in TTR amyloidosis	24
Individual myasthenia gravis autoantibody clones can efficiently mediate multiple mechanisms of pathology	24
Head-to-head comparison of [18F]-Flortaucipir, [18F]-MK-6240 and [18F]-PI-2620 postmortem binding across the spectrum of neurodegenerative diseases	24
The choroidal nervous system: a link between mineralocorticoid receptor and pachychoroid	24
Methylation class oligosarcoma may encompass IDH-wildtype gliomas	24
Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions	24
Subgroup and subtype-specific outcomes in adult medulloblastoma	24
Vagus nerve inflammation contributes to dysautonomia in COVID-19	24
Scientific commentary on: “Phosphorylated tau in the retina correlates with tau pathology in the brain in Alzheimer’s disease and primary tauopathies”	24
DNA methylation-based classification of malformations of cortical development in the human brain	24
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13	24
Unique seeding profiles and prion-like propagation of synucleinopathies are highly dependent on the host in human α-synuclein transgenic mice	23
Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions	23
Archival wild-type poliovirus 1 infected central nervous system tissues of the pre-vaccination era in Switzerland reveal a distinct virus genotype	23
Limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) is independently associated with dementia and strongly associated with arteriolosclerosis in the oldest-old	23
Immunohistochemistry as a tool to identify ELP1-associated medulloblastoma	23
Cross-regional homeostatic and reactive glial signatures in multiple sclerosis	23
Professor Charles Duyckaerts (1951–2022)	23
Molecular classification and outcome of children with rare CNS embryonal tumors: results from St. Jude Children’s Research Hospital including the multi-center SJYC07 and SJMB03 clinical trials	23
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas: “it’s a numbers game”—implications for WNT medulloblastoma dose-reduction clinical trials	22
Physiological β-amyloid clearance by the liver and its therapeutic potential for Alzheimer’s disease	22
Selective vulnerability of tripartite synapses in amyotrophic lateral sclerosis	22
The perils of contact sport: pathologies of diffuse brain swelling and chronic traumatic encephalopathy neuropathologic change in a 23-year-old rugby union player	22
Spatial immune profiling of glioblastoma identifies an inflammatory, perivascular phenotype associated with longer survival	22
Signature laminar distributions of pathology in frontotemporal lobar degeneration	22
Methylation class oligosarcoma, IDH-mutant could exhibit astrocytoma-like molecular features	22
The neuropathology of intimate partner violence	22
Association of small vessel disease with tau pathology	21
Persistent virus-specific and clonally expanded antibody-secreting cells respond to induced self-antigen in the CNS	21
Adaptive structural changes in the motor cortex and white matter in Parkinson’s disease	21
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure	21
TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy	21
Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features	21
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion	21
Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion	20
Early and selective localization of tau filaments to glutamatergic subcellular domains within the human anterodorsal thalamus	20
Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss	20
Neuronal tau pathology worsens late-phase white matter degeneration after traumatic brain injury in transgenic mice	20
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations	20
Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma	20
Selective tau seeding assays and isoform-specific antibodies define neuroanatomic distribution of progressive supranuclear palsy pathology arising in Alzheimer’s disease	20
Brain vasculature accumulates tau and is spatially related to tau tangle pathology in Alzheimer’s disease	20
Characterization of hippocampal sclerosis of aging and its association with other neuropathologic changes and cognitive deficits in the oldest-old	19
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis	19
Correction: Increased mRNA expression of CDKN2A is a transcriptomic marker of clinically aggressive meningiomas	19
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation	19
New evidence suggests SARS-CoV-2 neuroinvasion along the nervus terminalis rather than the olfactory pathway	19
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics	19
Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains	19
Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease	18
α-Synuclein molecular behavior and nigral proteomic profiling distinguish subtypes of Lewy body disorders	18

Transmission of cervid prions to humanized mice demonstrates the zoonotic potential of CWD	18
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification	18
Consequences of variability in α-synuclein fibril structure on strain biology	18
Flow blockage disrupts cilia-driven fluid transport in the epileptic brain	18
Anaplastic histology and distinct molecular features in a small series of spinal cord ependymomas	18
Multiple system atrophy prions transmit neurological disease to mice expressing wild-type human α-synuclein	18
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis	18
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes	18
Novel actionable ROS1::GIT2 fusion in non-Langerhans cell histiocytosis with central nervous system involvement	17
Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification	17
Similar brain proteomic signatures in Alzheimer’s disease and epilepsy	17
MSUT2 regulates tau spreading via adenosinergic signaling mediated ASAP1 pathway in neurons	17
Inflammation and the pathological progression of Alzheimer’s disease are associated with low circulating choline levels	17
Stress-inducible phosphoprotein 1 (HOP/STI1/STIP1) regulates the accumulation and toxicity of α-synuclein in vivo	17
Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours	17
Correction to: Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs	17
Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer’s disease	17
Genome-wide association study and functional validation implicates JADE1 in tauopathy	17
Annexin A11 aggregation in FTLD–TDP type C and related neurodegenerative disease proteinopathies	17
Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion	17
New insights into neuropathology and pathogenesis of autoimmune glial fibrillary acidic protein meningoencephalomyelitis	17
A point mutation in GPI-attachment signal peptide accelerates the development of prion disease	16
Viral entry and translation in brain endothelia provoke influenza-associated encephalopathy	16
Heterogeneity of white matter astrocytes in the human brain	16
Gene expression profiling of Group 3 medulloblastomas defines a clinically tractable stratification based on KIRREL2 expression	15
A recurrent homozygous ACTN2 variant associated with core myopathy	15
Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors	15
Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career	15
Frequency of LATE neuropathologic change across the spectrum of Alzheimer’s disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts	15
Cryo-EM structures of prion protein filaments from Gerstmann–Sträussler–Scheinker disease	14
Performance of a seed amplification assay for misfolded alpha-synuclein in cerebrospinal fluid and brain tissue in relation to Lewy body disease stage and pathology burden	14
Perivascular space dilation is associated with vascular amyloid-β accumulation in the overlying cortex	14
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model	14
Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors	14
Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice	14
Correction to: Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS	14
EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma	14
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease	14
Somatic LINE-1 promoter acquisition drives oncogenic FOXR2 activation in pediatric brain tumor	14
Galectin-3 is elevated in CSF and is associated with Aβ deposits and tau aggregates in brain tissue in Alzheimer’s disease	14
Rainwater Charitable Foundation criteria for the neuropathologic diagnosis of progressive supranuclear palsy	14
Mutant LRRK2 exacerbates immune response and neurodegeneration in a chronic model of experimental colitis	14
Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia	14
Genetic and epigenetic profiling identifies two distinct classes of spinal meningiomas	14
Analysis of inflammatory markers and tau deposits in an autopsy series of nine patients with anti-IgLON5 disease	14
Tuberous sclerosis complex is associated with a novel human tauopathy	14