Acta Neuropathologica

Papers
(The median citation count of Acta Neuropathologica is 11. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD147
A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques136
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy129
The proteomic landscape of glioblastoma recurrence reveals novel and targetable immunoregulatory drivers122
Capillary basement membrane reduplication in myositis patients with mild clinical features of systemic sclerosis supports the concept of ‘scleromyositis’115
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis114
Macrophages and endothelial cells in the neurovascular unit103
Co-registration of MALDI-MSI and histology demonstrates gangliosides co-localize with amyloid beta plaques in Alzheimer’s disease99
Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database91
Wolframin is a novel regulator of tau pathology and neurodegeneration89
Identification of high-performing antibodies for the reliable detection of Tau proteoforms by Western blotting and immunohistochemistry84
Integrative multi-omics reveals two biologically distinct groups of pilocytic astrocytoma83
BTK inhibition limits microglia-perpetuated CNS inflammation and promotes myelin repair74
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility73
Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum71
A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting70
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation68
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS67
Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype62
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics60
Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases59
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination59
TREM2 gene expression associations with Alzheimer’s disease neuropathology are region-specific: implications for cortical versus subcortical microglia56
TDP-43 pathology in the retina of patients with frontotemporal lobar degeneration53
Detection of blood–brain barrier disruption in brains of patients with COVID-19, but no evidence of brain penetration by SARS-CoV-252
The Alzheimer’s disease GWAS risk alleles in the ABCA7 promoter and 5’ region reduce ABCA7 expression52
Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy51
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 251
TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking51
Biomarkers for parkinsonian disorders in CNS-originating EVs: promise and challenges50
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 oth50
Even heterozygous loss of CDKN2A/B greatly accelerates recurrence in aggressive meningioma50
Tau seeding in chronic traumatic encephalopathy parallels disease severity49
Expanding the spectrum of amyloid-β plaque pathology: the Down syndrome associated ‘bird-nest plaque’45
Neuropathological associations of limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) differ between the oldest-old and younger-old45
Jorge Cervós-Navarro 1930–202145
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy45
Myeloid cell iron uptake pathways and paramagnetic rim formation in multiple sclerosis44
Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau43
Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson’s disease-related fibril polymorphism42
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy41
Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as “Glioneuronal Tumors, NOS, Subtype A”39
Clinical applicability of miR517a detection in liquid biopsies of ETMR patients38
DTYMK is essential for genome integrity and neuronal survival37
PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD37
Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy37
Correction to: MET receptor serves as a promising target in melanoma brain metastases37
Neuropathologic scales of cerebrovascular disease associated with diffusion changes on MRI37
White matter microglia heterogeneity in the CNS35
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations35
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 diseas35
Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study35
CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease35
The variance in phosphorylated, insoluble ⍺-synuclein in humans, rats, and mice is not mainly driven by biological sex34
A CHCHD6–APP axis connects amyloid and mitochondrial pathology in Alzheimer’s disease34
Co-expression of APP/PS1 disrupts the distribution of brain lesions in a synucleinopathy transgenic mouse model (M83)34
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 220434
Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS33
Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease33
Distinct characteristics of limbic-predominant age-related TDP-43 encephalopathy in Lewy body disease33
Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses33
From methylation to myelination: epigenomic and transcriptomic profiling of chronic inactive demyelinated multiple sclerosis lesions32
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease32
Chronic traumatic encephalopathy in a female ex-professional Australian rules footballer32
Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma32
Clinically unfavorable transcriptome subtypes of non-WNT/non-SHH medulloblastomas are associated with a predominance in proliferating and progenitor-like cell subpopulations32
Microglia and monocytes in inflammatory CNS disease: integrating phenotype and function32
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis32
DGCR8 and the six hit, three-step model of schwannomatosis32
EZHIP: a new piece of the puzzle towards understanding pediatric posterior fossa ependymoma31
Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change31
Tau seeds occur before earliest Alzheimer’s changes and are prevalent across neurodegenerative diseases31
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex31
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing31
Co-pathology may impact outcomes of amyloid-targeting treatments: clinicopathological results from two patients treated with aducanumab30
Diverse human astrocyte and microglial transcriptional responses to Alzheimer’s pathology30
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 130
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD29
The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study29
Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration29
Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE29
Fatal encephalitis caused by Newcastle disease virus in a child28
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 barrie28
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy28
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas28
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy28
Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier27
Urinary tract infections trigger synucleinopathy via the innate immune response27
Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer’s disease pathology progression27
p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ400327
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts27
Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development27
Characterisation of premature cell senescence in Alzheimer’s disease using single nuclear transcriptomics27
Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas26
A new non-aggregative splicing isoform of human Tau is decreased in Alzheimer’s disease26
Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson’s disease26
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients26
Loss of the heterogeneous expression of flippase ATP11B leads to cerebral small vessel disease in a normotensive rat model26
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 126
Hemorrhagic lesion with detection of infected endothelial cells in human bornavirus encephalitis26
Retinal pathological features and proteome signatures of Alzheimer’s disease25
Phenotypic diversity of genetic Creutzfeldt–Jakob disease: a histo-molecular-based classification25
Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS25
DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma24
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival24
Identification of retinoblastoma binding protein 7 (Rbbp7) as a mediator against tau acetylation and subsequent neuronal loss in Alzheimer’s disease and related tauopathies24
More than meets the eye in Parkinson’s disease and other synucleinopathies: from proteinopathy to lipidopathy24
“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade24
Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification24
Oncostatin M triggers brain inflammation by compromising blood–brain barrier integrity24
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas24
Transmission experiments verify sporadic V2 prion in a patient with E200K mutation24
DNA methylation-based classification of malformations of cortical development in the human brain23
Ferroptosis inhibitor improves outcome after early and delayed treatment in mild spinal cord injury23
Scientific commentary on: “Phosphorylated tau in the retina correlates with tau pathology in the brain in Alzheimer’s disease and primary tauopathies”23
Vagus nerve inflammation contributes to dysautonomia in COVID-1923
DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease23
Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions22
Methylation class oligosarcoma may encompass IDH-wildtype gliomas22
Subgroup and subtype-specific outcomes in adult medulloblastoma22
Individual myasthenia gravis autoantibody clones can efficiently mediate multiple mechanisms of pathology22
Neuropathology of central nervous system involvement in TTR amyloidosis22
The choroidal nervous system: a link between mineralocorticoid receptor and pachychoroid22
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 1321
Limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) is independently associated with dementia and strongly associated with arteriolosclerosis in the oldest-old21
Head-to-head comparison of [18F]-Flortaucipir, [18F]-MK-6240 and [18F]-PI-2620 postmortem binding across the spectrum of neurodegenerative diseases21
Professor Charles Duyckaerts (1951–2022)21
Methylation class oligosarcoma, IDH-mutant could exhibit astrocytoma-like molecular features21
The perils of contact sport: pathologies of diffuse brain swelling and chronic traumatic encephalopathy neuropathologic change in a 23-year-old rugby union player21
Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions21
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 trials21
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 trials21
Archival wild-type poliovirus 1 infected central nervous system tissues of the pre-vaccination era in Switzerland reveal a distinct virus genotype21
Immunohistochemistry as a tool to identify ELP1-associated medulloblastoma21
Physiological β-amyloid clearance by the liver and its therapeutic potential for Alzheimer’s disease20
Unique seeding profiles and prion-like propagation of synucleinopathies are highly dependent on the host in human α-synuclein transgenic mice20
Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features20
Signature laminar distributions of pathology in frontotemporal lobar degeneration20
Selective vulnerability of tripartite synapses in amyotrophic lateral sclerosis20
TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy20
Persistent virus-specific and clonally expanded antibody-secreting cells respond to induced self-antigen in the CNS20
The neuropathology of intimate partner violence20
Cross-regional homeostatic and reactive glial signatures in multiple sclerosis20
Adaptive structural changes in the motor cortex and white matter in Parkinson’s disease20
Spatial immune profiling of glioblastoma identifies an inflammatory, perivascular phenotype associated with longer survival20
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion19
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure19
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers19
Association of small vessel disease with tau pathology19
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome18
Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss18
Selective tau seeding assays and isoform-specific antibodies define neuroanatomic distribution of progressive supranuclear palsy pathology arising in Alzheimer’s disease18
Brain vasculature accumulates tau and is spatially related to tau tangle pathology in Alzheimer’s disease18
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations18
Early and selective localization of tau filaments to glutamatergic subcellular domains within the human anterodorsal thalamus18
Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion18
Annexin A11 aggregation in FTLD–TDP type C and related neurodegenerative disease proteinopathies17
α-Synuclein molecular behavior and nigral proteomic profiling distinguish subtypes of Lewy body disorders17
Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma17
New evidence suggests SARS-CoV-2 neuroinvasion along the nervus terminalis rather than the olfactory pathway17
Characterization of hippocampal sclerosis of aging and its association with other neuropathologic changes and cognitive deficits in the oldest-old17
Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer’s disease17
Multiple system atrophy prions transmit neurological disease to mice expressing wild-type human α-synuclein17
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification17
Neuronal tau pathology worsens late-phase white matter degeneration after traumatic brain injury in transgenic mice17
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation17
Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains17
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis17
Consequences of variability in α-synuclein fibril structure on strain biology17
Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease17
Correction: Increased mRNA expression of CDKN2A is a transcriptomic marker of clinically aggressive meningiomas17
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics17
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis17
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes16
Novel actionable ROS1::GIT2 fusion in non-Langerhans cell histiocytosis with central nervous system involvement16
Similar brain proteomic signatures in Alzheimer’s disease and epilepsy16
Anaplastic histology and distinct molecular features in a small series of spinal cord ependymomas16
Complement-associated loss of CA2 inhibitory synapses in the demyelinated hippocampus impairs memory16
Stress-inducible phosphoprotein 1 (HOP/STI1/STIP1) regulates the accumulation and toxicity of α-synuclein in vivo16
Transmission of cervid prions to humanized mice demonstrates the zoonotic potential of CWD16
Flow blockage disrupts cilia-driven fluid transport in the epileptic brain16
Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours16
Seizure-mediated iron accumulation and dysregulated iron metabolism after status epilepticus and in temporal lobe epilepsy15
LRRK2 is reduced in Parkinson’s disease gut15
Inflammation and the pathological progression of Alzheimer’s disease are associated with low circulating choline levels15
New insights into neuropathology and pathogenesis of autoimmune glial fibrillary acidic protein meningoencephalomyelitis15
Genome-wide association study and functional validation implicates JADE1 in tauopathy15
Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion15
Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification15
MSUT2 regulates tau spreading via adenosinergic signaling mediated ASAP1 pathway in neurons14
Heterogeneity of white matter astrocytes in the human brain14
Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors14
Correction to: Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs14
Cryo-EM structures of prion protein filaments from Gerstmann–Sträussler–Scheinker disease14
Viral entry and translation in brain endothelia provoke influenza-associated encephalopathy14
Gene expression profiling of Group 3 medulloblastomas defines a clinically tractable stratification based on KIRREL2 expression14
A recurrent homozygous ACTN2 variant associated with core myopathy14
A point mutation in GPI-attachment signal peptide accelerates the development of prion disease14
Frequency of LATE neuropathologic change across the spectrum of Alzheimer’s disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts13
Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice13
Perivascular space dilation is associated with vascular amyloid-β accumulation in the overlying cortex13
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model13
Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career13
Mutant LRRK2 exacerbates immune response and neurodegeneration in a chronic model of experimental colitis13
EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma13
Galectin-3 is elevated in CSF and is associated with Aβ deposits and tau aggregates in brain tissue in Alzheimer’s disease13
Correction to: Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS13
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 burden13
Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia13
A glutaminyl cyclase-catalyzed α-synuclein modification identified in human synucleinopathies12
Dysregulation of astrocytic Ca2+ signaling and gliotransmitter release in mouse models of α-synucleinopathies12
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease12
PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum12
Rainwater Charitable Foundation criteria for the neuropathologic diagnosis of progressive supranuclear palsy12
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains12
Single-cell DNA sequencing reveals order of mutational acquisition in TRAF7/AKT1 and TRAF7/KLF4 mutant meningiomas11
Neuronal spreading and plaque induction of intracellular Aβ and its disruption of Aβ homeostasis11
Tuberous sclerosis complex is associated with a novel human tauopathy11
Galectin-3 shapes toxic alpha-synuclein strains in Parkinson’s disease11
Complement activation contributes to GAD antibody-associated encephalitis11
Associations of psychiatric disease and ageing with FKBP5 expression converge on superficial layer neurons of the neocortex11
Genetic and epigenetic profiling identifies two distinct classes of spinal meningiomas11
Somatic LINE-1 promoter acquisition drives oncogenic FOXR2 activation in pediatric brain tumor11
Soluble oligomers or insoluble fibrils? Scientific commentary on “Tau seeding and spreading in vivo is supported by both AD-derived fibrillar and oligomeric tau”11
Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease11
Analysis of inflammatory markers and tau deposits in an autopsy series of nine patients with anti-IgLON5 disease11
Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors11
Early white matter pathology in the fornix of the limbic system in Huntington disease11
Variant allelic frequency of driver mutations predicts success of genomic DNA methylation classification in central nervous system tumors11
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