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Expression of LTR and LINE1 transposable elements defines atypical teratoid/rhabdoid tumor subtypes
Expression of LTR and LINE1 transposable elements defines atypical teratoid/rhabdoid tumor subtypes
Atypical teratoid rhabdoid tumors (ATRTs) are aggressive central nervous system tumors mainly affecting young children. Ex...
The malignant transformation of an atypical angiocentric glioma, MYB-altered
The malignant transformation of an atypical angiocentric glioma, MYB-altered
According to the current World Health Organization classification of central nervous system tumors, the angiocentric gliom...
Gene therapy ameliorates neuromuscular pathology in CLN3 disease
Gene therapy ameliorates neuromuscular pathology in CLN3 disease
CLN3 disease is a neuronopathic lysosomal storage disorder that severely impacts the central nervous system (CNS) while al...
Co-occurrence of multiple pathologies in a case of frontotemporal dementia with TBK1 mutation: first in vivo detection of alpha-synuclein and tau co-pathology
Co-occurrence of multiple pathologies in a case of frontotemporal dementia with TBK1 mutation: first in vivo detection of alpha-synuclein and tau co-pathology
We present the case of a 74-year-old woman with behavioral variant frontotemporal dementia (bvFTD) linked to a pathogenic ...
Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome
Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome
Semantic dementia (SD) is a clinical subtype of frontotemporal dementia characterized by impaired word comprehension and s...
The neuropathological basis of elevated serum neurofilament light following experimental concussion
The neuropathological basis of elevated serum neurofilament light following experimental concussion
Mild traumatic brain injury (mTBI) or concussion is a substantial health problem globally, with up to 15% of patients expe...
The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function
The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function
Cullin 4B (CUL4B) is the scaffold protein in the CUL4B-RING E3 ubiquitin ligase (CRL4B) complex. Loss-of-function mutation...
Revisiting gliomatosis cerebri in adult-type diffuse gliomas: a comprehensive imaging, genomic and clinical analysis
Revisiting gliomatosis cerebri in adult-type diffuse gliomas: a comprehensive imaging, genomic and clinical analysis
Although gliomatosis cerebri (GC) has been removed as an independent tumor type from the WHO classification, its extensive...
Genomic profiles and clinical presentation of chordoma
Genomic profiles and clinical presentation of chordoma
Chordoma is a rare bone cancer with variable clinical outcomes. Here, we recruited 184 sporadic chordoma patients from the...
Macular structural integrity estimates are associated with Parkinson’s disease genetic risk
Macular structural integrity estimates are associated with Parkinson’s disease genetic risk
Optical coherence tomography (OCT) is a non-invasive technique to measure retinal layer thickness, providing insights into...
Astrocyte tau deposition in progressive supranuclear palsy is associated with dysregulation of MAPT transcription
Astrocyte tau deposition in progressive supranuclear palsy is associated with dysregulation of MAPT transcription
Progressive supranuclear palsy (PSP) is a neurodegenerative disease characterized by 4R tau deposition in neurons as well ...
Publisher Correction: Exploring the significance of caspase-cleaved tau in tauopathies and as a complementary pathology to phospho-tau in Alzheimer’s disease: implications for biomarker development and therapeutic targeting
Publisher Correction: Exploring the significance of caspase-cleaved tau in tauopathies and as a complementary pathology to phospho-tau in Alzheimer’s disease: implications for biomarker development and therapeutic targeting
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Dysregulation of neuroprotective lipoxin pathway in astrocytes in response to cytokines and ocular hypertension
Dysregulation of neuroprotective lipoxin pathway in astrocytes in response to cytokines and ocular hypertension
Glaucoma leads to vision loss due to retinal ganglion cell death. Astrocyte reactivity contributes to neurodegeneration. O...
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case
Helsmoortel–Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual...
BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion
BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion
Methylation class “CNS tumor with BCOR/BCOR(L1)-fusion” was recently defined based on methylation profiling an...
Therapeutic potential of targeting Nrf2 by panobinostat in pituitary neuroendocrine tumors
Therapeutic potential of targeting Nrf2 by panobinostat in pituitary neuroendocrine tumors
We aimed to identify the druggable cell-intrinsic vulnerabilities and target-based drug therapies for PitNETs using the hi...
A novel BRAF::PTPRN2 fusion in meningioma: a case report
A novel BRAF::PTPRN2 fusion in meningioma: a case report
Gene fusion events have been linked to oncogenesis in many cancers. However, gene fusions in meningioma are understudied c...
Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles
Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles
The SARS-CoV-2 pandemic not only resulted in millions of acute infections worldwide, but also in many cases of post-infect...
Glioblastoma pseudoprogression and true progression reveal spatially variable transcriptional differences
Glioblastoma pseudoprogression and true progression reveal spatially variable transcriptional differences
Post-resection radiologic monitoring to identify areas of new or progressive enhancement concerning for cancer recurrence ...
Cryo-EM structures of Aβ40 filaments from the leptomeninges of individuals with Alzheimer’s disease and cerebral amyloid angiopathy
Cryo-EM structures of Aβ40 filaments from the leptomeninges of individuals with Alzheimer’s disease and cerebral amyloid angiopathy
We used electron cryo-microscopy (cryo-EM) to determine the structures of Aβ40 filaments from the leptomeninges of in...
Transformation of non-neuritic into neuritic plaques during AD progression drives cortical spread of tau pathology via regenerative failure
Transformation of non-neuritic into neuritic plaques during AD progression drives cortical spread of tau pathology via regenerative failure
Extracellular amyloid-β (Aβ) plaques and intracellular aggregates of tau protein in form of neurofibrillary tang...
CDKN2A/B deletions are strongly associated with meningioma progression: a meta-analysis of individual patient data
CDKN2A/B deletions are strongly associated with meningioma progression: a meta-analysis of individual patient data
Homozygous CDKN2A/B deletion has been associated with an increased risk of recurrence in meningiomas. However, the evidenc...
Advances in genetic abnormalities, epigenetic reprogramming, and immune landscape of intracranial germ cell tumors
Advances in genetic abnormalities, epigenetic reprogramming, and immune landscape of intracranial germ cell tumors
Intracranial germ cell tumors (IGCTs) are a rare subtype of central nervous system neoplasms that predominantly affect you...
Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma
Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma
In IDH-mutant astrocytoma, IDH2 mutation is quite rare and biological mechanisms underlying tumor progression in IDH2-muta...
The role of neuromuscular ultrasound in diagnostics of peripheral neuropathies induced by cytostatic agents or immunotherapies
The role of neuromuscular ultrasound in diagnostics of peripheral neuropathies induced by cytostatic agents or immunotherapies
A relevant number of cancer patients who receive potentially neurotoxic cytostatic agents develop a chemotherapy-induced p...
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause polymerase proofreading-associated polyposis...
Neuronal SNCA transcription during Lewy body formation
Neuronal SNCA transcription during Lewy body formation
Misfolded α-synuclein (α-syn) is believed to contribute to neurodegeneration in Lewy body disease (LBD) based on...
Molecular and functional profiling of chemotolerant cells unveils nucleoside metabolism-dependent vulnerabilities in medulloblastoma
Molecular and functional profiling of chemotolerant cells unveils nucleoside metabolism-dependent vulnerabilities in medulloblastoma
Chemotherapy resistance is considered one of the main causes of tumor relapse, still challenging researchers for the ident...
Neuronal dysfunction caused by FUSR521G promotes ALS-associated phenotypes that are attenuated by NF-κB inhibition
Neuronal dysfunction caused by FUSR521G promotes ALS-associated phenotypes that are attenuated by NF-κB inhibition
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative diseases that belong t...
Tau seed amplification assay reveals relationship between seeding and pathological forms of tau in Alzheimer’s disease brain
Tau seed amplification assay reveals relationship between seeding and pathological forms of tau in Alzheimer’s disease brain
Tau seed amplification assays (SAAs) directly measure the seeding activity of tau and would therefore be ideal biomarkers ...
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