Acta Neuropathologica

Papers
(The TQCC of Acta Neuropathologica is 25. 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 2021-08-01 to 2025-08-01.)
ArticleCitations
Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD158
Macrophages and endothelial cells in the neurovascular unit148
A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques148
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy139
The proteomic landscape of glioblastoma recurrence reveals novel and targetable immunoregulatory drivers132
Wolframin is a novel regulator of tau pathology and neurodegeneration107
Co-registration of MALDI-MSI and histology demonstrates gangliosides co-localize with amyloid beta plaques in Alzheimer’s disease98
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis95
Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database93
Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype92
A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting85
Identification of high-performing antibodies for the reliable detection of Tau proteoforms by Western blotting and immunohistochemistry83
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation79
BTK inhibition limits microglia-perpetuated CNS inflammation and promotes myelin repair72
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility66
Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum65
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS64
Integrative multi-omics reveals two biologically distinct groups of pilocytic astrocytoma64
TDP-43 pathology in the retina of patients with frontotemporal lobar degeneration61
Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy60
Biomarkers for parkinsonian disorders in CNS-originating EVs: promise and challenges58
The Alzheimer’s disease GWAS risk alleles in the ABCA7 promoter and 5’ region reduce ABCA7 expression58
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics57
Detection of blood–brain barrier disruption in brains of patients with COVID-19, but no evidence of brain penetration by SARS-CoV-255
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 252
Even heterozygous loss of CDKN2A/B greatly accelerates recurrence in aggressive meningioma51
TREM2 gene expression associations with Alzheimer’s disease neuropathology are region-specific: implications for cortical versus subcortical microglia51
Tau seeding in chronic traumatic encephalopathy parallels disease severity50
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination50
Jorge Cervós-Navarro 1930–202149
Neuropathological associations of limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) differ between the oldest-old and younger-old46
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 oth45
Myeloid cell iron uptake pathways and paramagnetic rim formation in multiple sclerosis45
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/FTD43
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 patients41
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy40
Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson’s disease-related fibril polymorphism40
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy40
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 diseas40
Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau40
Correction to: MET receptor serves as a promising target in melanoma brain metastases39
White matter microglia heterogeneity in the CNS39
DTYMK is essential for genome integrity and neuronal survival39
A CHCHD6–APP axis connects amyloid and mitochondrial pathology in Alzheimer’s disease39
CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease38
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations37
Neuropathologic scales of cerebrovascular disease associated with diffusion changes on MRI37
Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study37
Chronic traumatic encephalopathy in a female ex-professional Australian rules footballer36
Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses36
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 sex36
From methylation to myelination: epigenomic and transcriptomic profiling of chronic inactive demyelinated multiple sclerosis lesions35
DGCR8 and the six hit, three-step model of schwannomatosis35
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 220435
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease35
Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS35
Distinct characteristics of limbic-predominant age-related TDP-43 encephalopathy in Lewy body disease34
Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma34
Clinically unfavorable transcriptome subtypes of non-WNT/non-SHH medulloblastomas are associated with a predominance in proliferating and progenitor-like cell subpopulations34
Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change34
Microglia and monocytes in inflammatory CNS disease: integrating phenotype and function34
Tau seeds occur before earliest Alzheimer’s changes and are prevalent across neurodegenerative diseases33
EZHIP: a new piece of the puzzle towards understanding pediatric posterior fossa ependymoma33
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 132
Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE32
Co-pathology may impact outcomes of amyloid-targeting treatments: clinicopathological results from two patients treated with aducanumab32
Diverse human astrocyte and microglial transcriptional responses to Alzheimer’s pathology32
The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study32
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis31
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex31
p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ400330
Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier30
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy30
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 barrie30
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas29
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy29
Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration29
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD29
Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer’s disease pathology progression29
Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development29
Characterisation of premature cell senescence in Alzheimer’s disease using single nuclear transcriptomics28
Hemorrhagic lesion with detection of infected endothelial cells in human bornavirus encephalitis28
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients28
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts28
Loss of the heterogeneous expression of flippase ATP11B leads to cerebral small vessel disease in a normotensive rat model28
Retinal pathological features and proteome signatures of Alzheimer’s disease27
Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS27
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 127
Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson’s disease27
More than meets the eye in Parkinson’s disease and other synucleinopathies: from proteinopathy to lipidopathy27
Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas27
Urinary tract infections trigger synucleinopathy via the innate immune response26
Transmission experiments verify sporadic V2 prion in a patient with E200K mutation26
Oncostatin M triggers brain inflammation by compromising blood–brain barrier integrity25
“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade25
DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma25
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival25
Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification25
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas25
Ferroptosis inhibitor improves outcome after early and delayed treatment in mild spinal cord injury25
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