OOIR: Observatory of International Research

Papers

(The TQCC of Acta Neuropathologica is 23. 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 2021-04-01 to 2025-04-01.)

Article	Citations
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis	146
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing	132
Transcriptome analysis stratifies second-generation non-WNT/non-SHH medulloblastoma subgroups into clinically tractable subtypes	127
Alternatively spliced ELAVL3 cryptic exon 4a causes ELAVL3 downregulation in ALS TDP-43 proteinopathy	113
Blood-based Aβ42 increases in the earliest pre-pathological stage before decreasing with progressive amyloid pathology in preclinical models and human subjects: opening new avenues for prevention	111
Clinically unfavorable transcriptome subtypes of non-WNT/non-SHH medulloblastomas are associated with a predominance in proliferating and progenitor-like cell subpopulations	109
Tau seeds occur before earliest Alzheimer’s changes and are prevalent across neurodegenerative diseases	106
Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice	103
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion	99
Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE	99
A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques	90
Correction to: Accumulation of TMEM106B C‑terminal fragments in neurodegenerative disease and aging	80
Capillary basement membrane reduplication in myositis patients with mild clinical features of systemic sclerosis supports the concept of ‘scleromyositis’	79
TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy	76
Increased NF-L levels in the TDP-43G298S ALS mouse model resemble NF-L levels in ALS patients	72
A glutaminyl cyclase-catalyzed α-synuclein modification identified in human synucleinopathies	71
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy	70
Correction to: Flow blockage disrupts cilia-driven fluid transport in the epileptic brain	68
The proteomic landscape of glioblastoma recurrence reveals novel and targetable immunoregulatory drivers	65
Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis	64
Single-nucleus chromatin accessibility profiling highlights distinct astrocyte signatures in progressive supranuclear palsy and corticobasal degeneration	62
Correction to: Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS	56
IL-10-providing B cells govern pro-inflammatory activity of macrophages and microglia in CNS autoimmunity	56
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis	55
Strain diversity in neurodegenerative disease: an argument for a personalized medicine approach to diagnosis and treatment	51

EZHIP: a new piece of the puzzle towards understanding pediatric posterior fossa ependymoma	51
Targeting cancer stem cells in medulloblastoma by inhibiting AMBRA1 dual function in autophagy and STAT3 signalling	51
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis	50
Perivascular space dilation is associated with vascular amyloid-β accumulation in the overlying cortex	50
From shape to contents: heterogeneity of CNS glial cells	50
Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features	49
Pineal parenchymal tumors of intermediate differentiation: in need of a stringent definition to avoid confusion. Scientific commentary on ‘Genetical and epigenetical profiling identifies two subgroups	49
The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study	48
More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over‐represented in two Huntington’s disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT	48
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model	46
Persistent virus-specific and clonally expanded antibody-secreting cells respond to induced self-antigen in the CNS	43
Macrophages and endothelial cells in the neurovascular unit	42
Gene transcript fusions are associated with clinical outcomes and molecular groups of meningiomas	42
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex	41
Co-registration of MALDI-MSI and histology demonstrates gangliosides co-localize with amyloid beta plaques in Alzheimer’s disease	41
Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database	40
Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change	40
Intratumor and informatic heterogeneity influence meningioma molecular classification	39
R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils	37
Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma	36
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers	36
Epigenetic and gene expression changes of neuronal cells from MSA patients are pronounced in enzymes for cell metabolism and calcium-regulated protein kinases	36
Stage-dependent immunity orchestrates AQP4 antibody-guided NMOSD pathology: a role for netting neutrophils with resident memory T cells in situ	35
Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD	35
Loss of TDP-43 splicing repression occurs early in the aging population and is associated with Alzheimer’s disease neuropathologic changes and cognitive decline	35
Evidence of traumatic brain injury in headbutting bovids	35
Targeting fibroblast growth factor receptors to combat aggressive ependymoma	34
Optimal blood tau species for the detection of Alzheimer’s disease neuropathology: an immunoprecipitation mass spectrometry and autopsy study	34
Galectin-3 is elevated in CSF and is associated with Aβ deposits and tau aggregates in brain tissue in Alzheimer’s disease	33
Diverse human astrocyte and microglial transcriptional responses to Alzheimer’s pathology	33
Association of small vessel disease with tau pathology	33
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1	33
Co-pathology may impact outcomes of amyloid-targeting treatments: clinicopathological results from two patients treated with aducanumab	33
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy	33
Spatial immune profiling of glioblastoma identifies an inflammatory, perivascular phenotype associated with longer survival	33
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure	32
EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma	32
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease	32
Tau seeding and spreading in vivo is supported by both AD-derived fibrillar and oligomeric tau	31
Wolframin is a novel regulator of tau pathology and neurodegeneration	31
A network of core and subtype-specific gene expression programs in myositis	31
Mutant LRRK2 exacerbates immune response and neurodegeneration in a chronic model of experimental colitis	31
Comparing amyloid-β plaque burden with antemortem PiB PET in autosomal dominant and late-onset Alzheimer disease	30
Adaptive structural changes in the motor cortex and white matter in Parkinson’s disease	30
Rainwater Charitable Foundation criteria for the neuropathologic diagnosis of progressive supranuclear palsy	30
Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia	30
The oncogenic fusion landscape in pediatric CNS neoplasms	30
Associations of CSF BACE1 with amyloid pathology, neurodegeneration, and cognition in Alzheimer’s disease	30
Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion	29
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	29

Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier	29
Endothelial cells and macrophages as allies in the healthy and diseased brain	29
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects	28
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy	28
A T-cell antigen atlas for meningioma: novel options for immunotherapy	28
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains	28
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas	28
Reply: Soluble oligomers or insoluble fibrils?	28
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas	28
Selective tau seeding assays and isoform-specific antibodies define neuroanatomic distribution of progressive supranuclear palsy pathology arising in Alzheimer’s disease	27
NTRK rearrangements in a subset of NF1-related malignant peripheral nerve sheath tumors as novel actionable target	27
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD	27
Single-cell DNA sequencing reveals order of mutational acquisition in TRAF7/AKT1 and TRAF7/KLF4 mutant meningiomas	27
Tuberous sclerosis complex is associated with a novel human tauopathy	26
Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer’s disease pathology progression	26
Identification of high-performing antibodies for the reliable detection of Tau proteoforms by Western blotting and immunohistochemistry	26
Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype	26
Genetic and epigenetic profiling identifies two distinct classes of spinal meningiomas	26
Tau filaments with the chronic traumatic encephalopathy fold in a case of vacuolar tauopathy with VCP mutation D395G	26
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions	25
A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting	25
Early and selective localization of tau filaments to glutamatergic subcellular domains within the human anterodorsal thalamus	25
Fatal encephalitis caused by Newcastle disease virus in a child	25
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	25
Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology	25
Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration	25
Integrative multi-omics reveals two biologically distinct groups of pilocytic astrocytoma	25
BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy	25
Identification of low and very high-risk patients with non-WNT/non-SHH medulloblastoma by improved clinico-molecular stratification of the HIT2000 and I-HIT-MED cohorts	25
A muscarinic receptor antagonist reverses multiple indices of diabetic peripheral neuropathy: preclinical and clinical studies using oxybutynin	24
Somatic LINE-1 promoter acquisition drives oncogenic FOXR2 activation in pediatric brain tumor	24
Correction to: Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43	24
MET receptor serves as a promising target in melanoma brain metastases	24
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome	23
Circular RNA profiling distinguishes medulloblastoma groups and shows aberrant RMST overexpression in WNT medulloblastoma	23
Neuronal tau pathology worsens late-phase white matter degeneration after traumatic brain injury in transgenic mice	23
Correction to: Limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) is independently associated with dementia and strongly associated with arteriolosclerosis in the	23
Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture	23
Dysregulation of astrocytic Ca2+ signaling and gliotransmitter release in mouse models of α-synucleinopathies	23
Recurrent ACVR1 mutations in posterior fossa ependymoma	23
Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development	23
p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003	23