OOIR: Observatory of International Research

Papers

(The median citation count of Acta Neuropathologica is 19. 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 2022-08-01 to 2026-08-01.)

Article	Citations
A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques	235
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy	217
Macrophages and endothelial cells in the neurovascular unit	145
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis	142
Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database	128
The proteomic landscape of glioblastoma recurrence reveals novel and targetable immunoregulatory drivers	111
Co-registration of MALDI-MSI and histology demonstrates gangliosides co-localize with amyloid beta plaques in Alzheimer’s disease	99
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation	97
Integrative multi-omics reveals two biologically distinct groups of pilocytic astrocytoma	95
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	90
Identification of high-performing antibodies for the reliable detection of Tau proteoforms by Western blotting and immunohistochemistry	83
BTK inhibition limits microglia-perpetuated CNS inflammation and promotes myelin repair	73
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	72
Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum	68
TDP-43 pathology in the retina of patients with frontotemporal lobar degeneration	67
Detection of blood–brain barrier disruption in brains of patients with COVID-19, but no evidence of brain penetration by SARS-CoV-2	67
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics	66
Even heterozygous loss of CDKN2A/B greatly accelerates recurrence in aggressive meningioma	64
TREM2 gene expression associations with Alzheimer’s disease neuropathology are region-specific: implications for cortical versus subcortical microglia	64
Biomarkers for parkinsonian disorders in CNS-originating EVs: promise and challenges	64
Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy	62
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2	62
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination	60
Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as “Glioneuronal Tumors, NOS, Subtype A”	60

PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD	60
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy	58
Expanding the spectrum of amyloid-β plaque pathology: the Down syndrome associated ‘bird-nest plaque’	57
Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson’s disease-related fibril polymorphism	56
Clinical applicability of miR517a detection in liquid biopsies of ETMR patients	56
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy	55
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	54
Myeloid cell iron uptake pathways and paramagnetic rim formation in multiple sclerosis	54
Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau	54
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations	53
Correction to: MET receptor serves as a promising target in melanoma brain metastases	53
A CHCHD6–APP axis connects amyloid and mitochondrial pathology in Alzheimer’s disease	52
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	51
Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses	50
From methylation to myelination: epigenomic and transcriptomic profiling of chronic inactive demyelinated multiple sclerosis lesions	50
CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease	50
The variance in phosphorylated, insoluble ⍺-synuclein in humans, rats, and mice is not mainly driven by biological sex	49
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	49
Chronic traumatic encephalopathy in a female ex-professional Australian rules footballer	49
Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS	49
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease	48
Clinically unfavorable transcriptome subtypes of non-WNT/non-SHH medulloblastomas are associated with a predominance in proliferating and progenitor-like cell subpopulations	47
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex	47
Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma	46
The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study	46
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis	46
Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change	46
Tau seeds occur before earliest Alzheimer’s changes and are prevalent across neurodegenerative diseases	45
Co-pathology may impact outcomes of amyloid-targeting treatments: clinicopathological results from two patients treated with aducanumab	44
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1	43
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	42
Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE	42
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy	42
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy	42
p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003	41
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas	40
Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration	40
Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer’s disease pathology progression	40
Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier	39
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts	39
Urinary tract infections trigger synucleinopathy via the innate immune response	38
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients	37
Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas	36
Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS	36
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1	36
Characterisation of premature cell senescence in Alzheimer’s disease using single nuclear transcriptomics	36
More than meets the eye in Parkinson’s disease and other synucleinopathies: from proteinopathy to lipidopathy	36
Retinal pathological features and proteome signatures of Alzheimer’s disease	36
Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification	35
“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade	35

Transmission experiments verify sporadic V2 prion in a patient with E200K mutation	35
Ferroptosis inhibitor improves outcome after early and delayed treatment in mild spinal cord injury	34
Vagus nerve inflammation contributes to dysautonomia in COVID-19	33
Methylation class oligosarcoma may encompass IDH-wildtype gliomas	33
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas	33
The choroidal nervous system: a link between mineralocorticoid receptor and pachychoroid	33
Scientific commentary on: “Phosphorylated tau in the retina correlates with tau pathology in the brain in Alzheimer’s disease and primary tauopathies”	33
Neuropathology of central nervous system involvement in TTR amyloidosis	32
DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease	31
Individual myasthenia gravis autoantibody clones can efficiently mediate multiple mechanisms of pathology	31
Head-to-head comparison of [18F]-Flortaucipir, [18F]-MK-6240 and [18F]-PI-2620 postmortem binding across the spectrum of neurodegenerative diseases	31
Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions	31
Archival wild-type poliovirus 1 infected central nervous system tissues of the pre-vaccination era in Switzerland reveal a distinct virus genotype	30
Professor Charles Duyckaerts (1951–2022)	30
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	30
The neuropathology of intimate partner violence	30
The perils of contact sport: pathologies of diffuse brain swelling and chronic traumatic encephalopathy neuropathologic change in a 23-year-old rugby union player	30
Cross-regional homeostatic and reactive glial signatures in multiple sclerosis	29
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	29
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion	29
Physiological β-amyloid clearance by the liver and its therapeutic potential for Alzheimer’s disease	29
TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy	29
Methylation class oligosarcoma, IDH-mutant could exhibit astrocytoma-like molecular features	29
Persistent virus-specific and clonally expanded antibody-secreting cells respond to induced self-antigen in the CNS	28
Spatial immune profiling of glioblastoma identifies an inflammatory, perivascular phenotype associated with longer survival	28
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure	28
Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features	28
Adaptive structural changes in the motor cortex and white matter in Parkinson’s disease	27
Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss	27
Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma	26
Early and selective localization of tau filaments to glutamatergic subcellular domains within the human anterodorsal thalamus	26
Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion	26
Selective tau seeding assays and isoform-specific antibodies define neuroanatomic distribution of progressive supranuclear palsy pathology arising in Alzheimer’s disease	26
Brain vasculature accumulates tau and is spatially related to tau tangle pathology in Alzheimer’s disease	25
Neuronal tau pathology worsens late-phase white matter degeneration after traumatic brain injury in transgenic mice	25
New evidence suggests SARS-CoV-2 neuroinvasion along the nervus terminalis rather than the olfactory pathway	25
Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease	24
Characterization of hippocampal sclerosis of aging and its association with other neuropathologic changes and cognitive deficits in the oldest-old	23
Correction: Increased mRNA expression of CDKN2A is a transcriptomic marker of clinically aggressive meningiomas	23
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics	23
Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains	23
Transmission of cervid prions to humanized mice demonstrates the zoonotic potential of CWD	22
Anaplastic histology and distinct molecular features in a small series of spinal cord ependymomas	22
Multiple system atrophy prions transmit neurological disease to mice expressing wild-type human α-synuclein	22
Flow blockage disrupts cilia-driven fluid transport in the epileptic brain	22
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes	21
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification	21
Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours	21
Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer’s disease	21
Stress-inducible phosphoprotein 1 (HOP/STI1/STIP1) regulates the accumulation and toxicity of α-synuclein in vivo	21
Novel actionable ROS1::GIT2 fusion in non-Langerhans cell histiocytosis with central nervous system involvement	21
Annexin A11 aggregation in FTLD–TDP type C and related neurodegenerative disease proteinopathies	21
Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification	21
Inflammation and the pathological progression of Alzheimer’s disease are associated with low circulating choline levels	20
Correction to: Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs	20
Similar brain proteomic signatures in Alzheimer’s disease and epilepsy	20
A point mutation in GPI-attachment signal peptide accelerates the development of prion disease	20
New insights into neuropathology and pathogenesis of autoimmune glial fibrillary acidic protein meningoencephalomyelitis	20
Viral entry and translation in brain endothelia provoke influenza-associated encephalopathy	20
Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion	19
Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors	19
MSUT2 regulates tau spreading via adenosinergic signaling mediated ASAP1 pathway in neurons	19
Correction to: Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS	19
Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career	19
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model	19