OOIR: Observatory of International Research

Papers

(The TQCC of Acta Neuropathologica is 24. 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 2021-06-01 to 2025-06-01.)

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
Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database	92
Capillary basement membrane reduplication in myositis patients with mild clinical features of systemic sclerosis supports the concept of ‘scleromyositis’	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
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation	74
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility	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
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

TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking	54
Even heterozygous loss of CDKN2A/B greatly accelerates recurrence in aggressive meningioma	52
Detection of blood–brain barrier disruption in brains of patients with COVID-19, but no evidence of brain penetration by SARS-CoV-2	52
Biomarkers for parkinsonian disorders in CNS-originating EVs: promise and challenges	51
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
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
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy	45
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-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
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
Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson’s disease-related fibril polymorphism	39
Correction to: MET receptor serves as a promising target in melanoma brain metastases	38
DTYMK is essential for genome integrity and neuronal survival	38
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
A CHCHD6–APP axis connects amyloid and mitochondrial pathology in Alzheimer’s disease	37
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
CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease	35
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
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
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
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
Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change	32
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing	32
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
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
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
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
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
Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration	29
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
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas	28
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
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
DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma	25
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
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
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