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A primary intracranial neuroepithelial neoplasm with novel TCF3::BEND2 fusion: a case report
A primary intracranial neuroepithelial neoplasm with novel TCF3::BEND2 fusion: a case report
Astroblastoma, MN1-altered, is a rare circumscribed glial neoplasm that is composed of round, cuboidal, orcolumnar cells w...
Host genetics and gut microbiota influence lipid metabolism and inflammation: potential implications for ALS pathophysiology in SOD1G93A mice
Host genetics and gut microbiota influence lipid metabolism and inflammation: potential implications for ALS pathophysiology in SOD1G93A mice
Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the progressive loss of m...
Correction: Revisiting gliomatosis cerebri in adult-type diffuse gliomas: a comprehensive imaging, genomic and clinical analysis
Correction: Revisiting gliomatosis cerebri in adult-type diffuse gliomas: a comprehensive imaging, genomic and clinical analysis
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Genotype‒phenotype correlation in recessive DNAJB4 myopathy
Genotype‒phenotype correlation in recessive DNAJB4 myopathy
Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochape...
Glioma immune microenvironment composition calculator (GIMiCC): a method of estimating the proportions of eighteen cell types from DNA methylation microarray data
Glioma immune microenvironment composition calculator (GIMiCC): a method of estimating the proportions of eighteen cell types from DNA methylation microarray data
A scalable platform for cell typing in the glioma microenvironment can improve tumor subtyping and immune landscape detect...
NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes
NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes
NF1 inactivation is associated with sensitivity to MEK inhibitor targeted therapy in low-grade and some high-grade gliomas...
Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis
Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis
Mutations in the isocitrate dehydrogenase (IDH) gene are recognized as the key drivers in the oncogenesis of astrocytoma a...
Acquisition of neurodegenerative features in isogenic OPTN(E50K) human stem cell-derived retinal ganglion cells associated with autophagy disruption and mTORC1 signaling reduction
Acquisition of neurodegenerative features in isogenic OPTN(E50K) human stem cell-derived retinal ganglion cells associated with autophagy disruption and mTORC1 signaling reduction
The ability to derive retinal ganglion cells (RGCs) from human pluripotent stem cells (hPSCs) has led to numerous advances...
Development and characterization of novel anti-acetylated tau monoclonal antibodies to probe pathogenic tau species in Alzheimer’s disease
Development and characterization of novel anti-acetylated tau monoclonal antibodies to probe pathogenic tau species in Alzheimer’s disease
Tauopathies, including Alzheimer’s disease (AD), are a class of neurodegenerative diseases characterized by the pres...
Metabolic remodeling in glioblastoma: a longitudinal multi-omics study
Metabolic remodeling in glioblastoma: a longitudinal multi-omics study
Monitoring tumor evolution and predicting survival using non-invasive liquid biopsy is an unmet need for glioblastoma pati...
A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore
A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore
Valosin-containing protein (VCP) is a ubiquitously expressed type II AAA+ ATPase protein, implicated in both amyotrophic l...
Crucial role of Aquaporin-4 extended isoform in brain water Homeostasis and Amyloid-β clearance: implications for Edema and neurodegenerative diseases
Crucial role of Aquaporin-4 extended isoform in brain water Homeostasis and Amyloid-β clearance: implications for Edema and neurodegenerative diseases
The water channel aquaporin-4 (AQP4) is crucial for water balance in the mammalian brain. AQP4 has two main canonical isof...
Comparative targeted lipidomics between serum and cerebrospinal fluid of multiple sclerosis patients shows sex and age-specific differences of endocannabinoids and glucocorticoids
Comparative targeted lipidomics between serum and cerebrospinal fluid of multiple sclerosis patients shows sex and age-specific differences of endocannabinoids and glucocorticoids
Multiple sclerosis (MS) is a complex chronic neuroinflammatory disease characterized by demyelination leading to neuronal ...
Non-supratentorial YAP1- fused ependymomas: report of two cases
Non-supratentorial YAP1- fused ependymomas: report of two cases
Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4....
Hyperspectral retinal imaging in Alzheimer’s disease and age-related macular degeneration: a review
Hyperspectral retinal imaging in Alzheimer’s disease and age-related macular degeneration: a review
While Alzheimer’s disease and other neurodegenerative diseases have traditionally been viewed as brain disorders, th...
Targeting the TDP-43 low complexity domain blocks spreading of pathology in a mouse model of ALS/FTD
Targeting the TDP-43 low complexity domain blocks spreading of pathology in a mouse model of ALS/FTD
Abnormal cytoplasmic localization and accumulation of pathological transactive response DNA binding protein of 43&nbsp...
Evaluation of Rho kinase inhibitor effects on neuroprotection and neuroinflammation in an ex-vivo retinal explant model
Evaluation of Rho kinase inhibitor effects on neuroprotection and neuroinflammation in an ex-vivo retinal explant model
Glaucoma is a leading cause of blindness, affecting retinal ganglion cells (RGCs) and their axons. By 2040, it is likely t...
Trem2-deficiency aggravates and accelerates age-related myelin degeneration
Trem2-deficiency aggravates and accelerates age-related myelin degeneration
Aging is the greatest known risk factor for most neurodegenerative diseases. Myelin degeneration is an early pathological ...
Correction: Neuropathological assessment of the olfactory bulb and tract in individuals with COVID-19
Correction: Neuropathological assessment of the olfactory bulb and tract in individuals with COVID-19
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Real-world experience with circulating tumor DNA in cerebrospinal fluid from patients with central nervous system tumors
Real-world experience with circulating tumor DNA in cerebrospinal fluid from patients with central nervous system tumors
The characterization of genetic alterations in tumor samples has become standard practice for many human cancers to achiev...
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids
A hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS)...
A patient-derived cell model for malignant transformation in IDH-mutant glioma
A patient-derived cell model for malignant transformation in IDH-mutant glioma
Malignant transformation (MT) is commonly seen in IDH-mutant gliomas. There has been a growing research interest in reveal...
Protein phosphatase 2Cm-regulated branched-chain amino acid catabolic defect in dorsal root ganglion neurons drives pain sensitization
Protein phosphatase 2Cm-regulated branched-chain amino acid catabolic defect in dorsal root ganglion neurons drives pain sensitization
Maladaptive changes of metabolic patterns in the lumbar dorsal root ganglion (DRG) are critical for nociceptive hypersensi...
Infrared spectral profiling of demyelinating activity in multiple sclerosis brain tissue
Infrared spectral profiling of demyelinating activity in multiple sclerosis brain tissue
Multiple sclerosis (MS) is a leading cause of non-traumatic disability in young adults. The highly dynamic nature of MS le...
TwinF interface inhibitor FP802 prevents retinal ganglion cell loss in a mouse model of amyotrophic lateral sclerosis
TwinF interface inhibitor FP802 prevents retinal ganglion cell loss in a mouse model of amyotrophic lateral sclerosis
Motor neuron loss is well recognized in amyotrophic lateral sclerosis (ALS), but research on retinal ganglion cells (RGCs)...
Aqueous extractable nonfibrillar and sarkosyl extractable fibrillar Alzheimer’s disease tau seeds have distinct properties
Aqueous extractable nonfibrillar and sarkosyl extractable fibrillar Alzheimer’s disease tau seeds have distinct properties
Pathological tau fibrils in progressive supranuclear palsy, frontotemporal dementia, chronic traumatic encephalopathy, and...
Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement
Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement
Neuroepithelial tumors with fusion of PLAGL1 or amplification of PLAGL1/PLAGL2 have recently been described often with epe...
ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons
ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease leading to motor neuron loss. Currently mu...
Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
CSF1R-related disorder (CSF1R-RD) is a neurodegenerative condition that predominantly affects white matter due to genetic ...
Longitudinal multiomics analysis of aggressive pituitary neuroendocrine tumors: comparing primary and recurrent tumors from the same patient, reveals genomic stability and heterogeneous transcriptomic profiles with alterations in metabolic pathways
Longitudinal multiomics analysis of aggressive pituitary neuroendocrine tumors: comparing primary and recurrent tumors from the same patient, reveals genomic stability and heterogeneous transcriptomic profiles with alterations in metabolic pathways
Pituitary neuroendocrine tumors (PitNET) represent the vast majority of sellar masses. Some behave aggressively, growing r...
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