Acta Neuropathologica

Article	Citations
Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD	149
A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques	138
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis	133
Macrophages and endothelial cells in the neurovascular unit	127
Co-registration of MALDI-MSI and histology demonstrates gangliosides co-localize with amyloid beta plaques in Alzheimer’s disease	122
The proteomic landscape of glioblastoma recurrence reveals novel and targetable immunoregulatory drivers	103
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy	102
Capillary basement membrane reduplication in myositis patients with mild clinical features of systemic sclerosis supports the concept of ‘scleromyositis’	92
Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database	92
Wolframin is a novel regulator of tau pathology and neurodegeneration	87
Integrative multi-omics reveals two biologically distinct groups of pilocytic astrocytoma	86
Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype	75
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility	74
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation	74
Identification of high-performing antibodies for the reliable detection of Tau proteoforms by Western blotting and immunohistochemistry	72
A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting	69
Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum	63
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	62
BTK inhibition limits microglia-perpetuated CNS inflammation and promotes myelin repair	62
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination	60
TDP-43 pathology in the retina of patients with frontotemporal lobar degeneration	58
Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy	58
The Alzheimer’s disease GWAS risk alleles in the ABCA7 promoter and 5’ region reduce ABCA7 expression	55
TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking	54
TREM2 gene expression associations with Alzheimer’s disease neuropathology are region-specific: implications for cortical versus subcortical microglia	54

Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases	54
Detection of blood–brain barrier disruption in brains of patients with COVID-19, but no evidence of brain penetration by SARS-CoV-2	52
Even heterozygous loss of CDKN2A/B greatly accelerates recurrence in aggressive meningioma	52
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2	51
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics	51
Biomarkers for parkinsonian disorders in CNS-originating EVs: promise and challenges	51
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	49
Tau seeding in chronic traumatic encephalopathy parallels disease severity	48
Jorge Cervós-Navarro 1930–2021	47
Expanding the spectrum of amyloid-β plaque pathology: the Down syndrome associated ‘bird-nest plaque’	45
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy	45
Neuropathological associations of limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) differ between the oldest-old and younger-old	44
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy	43
Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as “Glioneuronal Tumors, NOS, Subtype A”	42
Myeloid cell iron uptake pathways and paramagnetic rim formation in multiple sclerosis	41
PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD	40
Clinical applicability of miR517a detection in liquid biopsies of ETMR patients	40
Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson’s disease-related fibril polymorphism	39
Neuropathologic scales of cerebrovascular disease associated with diffusion changes on MRI	39
Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau	39
DTYMK is essential for genome integrity and neuronal survival	38
Correction to: MET receptor serves as a promising target in melanoma brain metastases	38
A CHCHD6–APP axis connects amyloid and mitochondrial pathology in Alzheimer’s disease	37
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	37
CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease	35
White matter microglia heterogeneity in the CNS	35
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations	35
Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study	35
Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS	34
Distinct characteristics of limbic-predominant age-related TDP-43 encephalopathy in Lewy body disease	34
The variance in phosphorylated, insoluble ⍺-synuclein in humans, rats, and mice is not mainly driven by biological sex	34
From methylation to myelination: epigenomic and transcriptomic profiling of chronic inactive demyelinated multiple sclerosis lesions	34
Co-expression of APP/PS1 disrupts the distribution of brain lesions in a synucleinopathy transgenic mouse model (M83)	34
DGCR8 and the six hit, three-step model of schwannomatosis	34
Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses	34
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease	33
Microglia and monocytes in inflammatory CNS disease: integrating phenotype and function	33
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	33
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis	33
Chronic traumatic encephalopathy in a female ex-professional Australian rules footballer	33
Clinically unfavorable transcriptome subtypes of non-WNT/non-SHH medulloblastomas are associated with a predominance in proliferating and progenitor-like cell subpopulations	33
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing	32
Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change	32
Co-pathology may impact outcomes of amyloid-targeting treatments: clinicopathological results from two patients treated with aducanumab	31
Tau seeds occur before earliest Alzheimer’s changes and are prevalent across neurodegenerative diseases	31
The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study	31
Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE	31
Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma	31
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy	30
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1	30

Diverse human astrocyte and microglial transcriptional responses to Alzheimer’s pathology	30
EZHIP: a new piece of the puzzle towards understanding pediatric posterior fossa ependymoma	30
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex	30
Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration	29
Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development	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
p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003	28
Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier	28
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas	28
Fatal encephalitis caused by Newcastle disease virus in a child	28
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy	28
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts	28
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	28
Hemorrhagic lesion with detection of infected endothelial cells in human bornavirus encephalitis	27
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients	27
Phenotypic diversity of genetic Creutzfeldt–Jakob disease: a histo-molecular-based classification	27
Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS	27
More than meets the eye in Parkinson’s disease and other synucleinopathies: from proteinopathy to lipidopathy	26
Urinary tract infections trigger synucleinopathy via the innate immune response	26
Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson’s disease	26
Loss of the heterogeneous expression of flippase ATP11B leads to cerebral small vessel disease in a normotensive rat model	26
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1	25
Characterisation of premature cell senescence in Alzheimer’s disease using single nuclear transcriptomics	25
Retinal pathological features and proteome signatures of Alzheimer’s disease	25
Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas	25
DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma	25
Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification	24
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival	24
DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease	24
Transmission experiments verify sporadic V2 prion in a patient with E200K mutation	24
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas	24
Vagus nerve inflammation contributes to dysautonomia in COVID-19	24
Ferroptosis inhibitor improves outcome after early and delayed treatment in mild spinal cord injury	24
“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade	24
Oncostatin M triggers brain inflammation by compromising blood–brain barrier integrity	24
DNA methylation-based classification of malformations of cortical development in the human brain	23
Head-to-head comparison of [18F]-Flortaucipir, [18F]-MK-6240 and [18F]-PI-2620 postmortem binding across the spectrum of neurodegenerative diseases	23
Scientific commentary on: “Phosphorylated tau in the retina correlates with tau pathology in the brain in Alzheimer’s disease and primary tauopathies”	23
Individual myasthenia gravis autoantibody clones can efficiently mediate multiple mechanisms of pathology	23
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	23
The choroidal nervous system: a link between mineralocorticoid receptor and pachychoroid	23
Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions	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
Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions	22
Subgroup and subtype-specific outcomes in adult medulloblastoma	22
Professor Charles Duyckaerts (1951–2022)	22
Methylation class oligosarcoma may encompass IDH-wildtype gliomas	22
Immunohistochemistry as a tool to identify ELP1-associated medulloblastoma	22
Neuropathology of central nervous system involvement in TTR amyloidosis	22
Archival wild-type poliovirus 1 infected central nervous system tissues of the pre-vaccination era in Switzerland reveal a distinct virus genotype	21
Selective vulnerability of tripartite synapses in amyotrophic lateral sclerosis	21
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	21
The perils of contact sport: pathologies of diffuse brain swelling and chronic traumatic encephalopathy neuropathologic change in a 23-year-old rugby union player	21
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	21
Unique seeding profiles and prion-like propagation of synucleinopathies are highly dependent on the host in human α-synuclein transgenic mice	21
Cross-regional homeostatic and reactive glial signatures in multiple sclerosis	21
Signature laminar distributions of pathology in frontotemporal lobar degeneration	21
The neuropathology of intimate partner violence	20
Persistent virus-specific and clonally expanded antibody-secreting cells respond to induced self-antigen in the CNS	20
Association of small vessel disease with tau pathology	20
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure	20
Methylation class oligosarcoma, IDH-mutant could exhibit astrocytoma-like molecular features	20
TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy	20
Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features	20
Adaptive structural changes in the motor cortex and white matter in Parkinson’s disease	20
Physiological β-amyloid clearance by the liver and its therapeutic potential for Alzheimer’s disease	20
Spatial immune profiling of glioblastoma identifies an inflammatory, perivascular phenotype associated with longer survival	20
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers	20
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion	20
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome	19
Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion	19
Early and selective localization of tau filaments to glutamatergic subcellular domains within the human anterodorsal thalamus	19
Selective tau seeding assays and isoform-specific antibodies define neuroanatomic distribution of progressive supranuclear palsy pathology arising in Alzheimer’s disease	19
Neuronal tau pathology worsens late-phase white matter degeneration after traumatic brain injury in transgenic mice	19
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations	19
Brain vasculature accumulates tau and is spatially related to tau tangle pathology in Alzheimer’s disease	18
Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma	18
Characterization of hippocampal sclerosis of aging and its association with other neuropathologic changes and cognitive deficits in the oldest-old	18
Flow blockage disrupts cilia-driven fluid transport in the epileptic brain	18

Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss	18
New evidence suggests SARS-CoV-2 neuroinvasion along the nervus terminalis rather than the olfactory pathway	18
Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains	18
Anaplastic histology and distinct molecular features in a small series of spinal cord ependymomas	18
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics	18
Correction: Increased mRNA expression of CDKN2A is a transcriptomic marker of clinically aggressive meningiomas	18
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation	18
Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease	18
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis	18
α-Synuclein molecular behavior and nigral proteomic profiling distinguish subtypes of Lewy body disorders	17
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis	17
Annexin A11 aggregation in FTLD–TDP type C and related neurodegenerative disease proteinopathies	17
Multiple system atrophy prions transmit neurological disease to mice expressing wild-type human α-synuclein	17
Consequences of variability in α-synuclein fibril structure on strain biology	17
Transmission of cervid prions to humanized mice demonstrates the zoonotic potential of CWD	17
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification	17
Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer’s disease	17
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes	17
Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours	16
Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification	16
Similar brain proteomic signatures in Alzheimer’s disease and epilepsy	16
Complement-associated loss of CA2 inhibitory synapses in the demyelinated hippocampus impairs memory	16
Seizure-mediated iron accumulation and dysregulated iron metabolism after status epilepticus and in temporal lobe epilepsy	16
Stress-inducible phosphoprotein 1 (HOP/STI1/STIP1) regulates the accumulation and toxicity of α-synuclein in vivo	16
Genome-wide association study and functional validation implicates JADE1 in tauopathy	16
Novel actionable ROS1::GIT2 fusion in non-Langerhans cell histiocytosis with central nervous system involvement	16
New insights into neuropathology and pathogenesis of autoimmune glial fibrillary acidic protein meningoencephalomyelitis	16
Inflammation and the pathological progression of Alzheimer’s disease are associated with low circulating choline levels	16
Correction to: Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs	15
A recurrent homozygous ACTN2 variant associated with core myopathy	15
Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion	15
MSUT2 regulates tau spreading via adenosinergic signaling mediated ASAP1 pathway in neurons	15
LRRK2 is reduced in Parkinson’s disease gut	15
A point mutation in GPI-attachment signal peptide accelerates the development of prion disease	15
Cryo-EM structures of prion protein filaments from Gerstmann–Sträussler–Scheinker disease	14
Viral entry and translation in brain endothelia provoke influenza-associated encephalopathy	14
Gene expression profiling of Group 3 medulloblastomas defines a clinically tractable stratification based on KIRREL2 expression	14
Frequency of LATE neuropathologic change across the spectrum of Alzheimer’s disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts	14
Correction to: Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS	14
Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors	14
Heterogeneity of white matter astrocytes in the human brain	14
Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career	14
Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice	13
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	13
A glutaminyl cyclase-catalyzed α-synuclein modification identified in human synucleinopathies	13
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease	13
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model	13
EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma	13
Perivascular space dilation is associated with vascular amyloid-β accumulation in the overlying cortex	13
Galectin-3 is elevated in CSF and is associated with Aβ deposits and tau aggregates in brain tissue in Alzheimer’s disease	13
Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia	13
Mutant LRRK2 exacerbates immune response and neurodegeneration in a chronic model of experimental colitis	13
Rainwater Charitable Foundation criteria for the neuropathologic diagnosis of progressive supranuclear palsy	13
Dysregulation of astrocytic Ca2+ signaling and gliotransmitter release in mouse models of α-synucleinopathies	13
Genetic and epigenetic profiling identifies two distinct classes of spinal meningiomas	12
Neuronal spreading and plaque induction of intracellular Aβ and its disruption of Aβ homeostasis	12
Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors	12
Associations of psychiatric disease and ageing with FKBP5 expression converge on superficial layer neurons of the neocortex	12
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains	12
Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease	12
Somatic LINE-1 promoter acquisition drives oncogenic FOXR2 activation in pediatric brain tumor	12
PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum	12
Tuberous sclerosis complex is associated with a novel human tauopathy	12
Single-cell DNA sequencing reveals order of mutational acquisition in TRAF7/AKT1 and TRAF7/KLF4 mutant meningiomas	12
Analysis of inflammatory markers and tau deposits in an autopsy series of nine patients with anti-IgLON5 disease	12
Early white matter pathology in the fornix of the limbic system in Huntington disease	12