SCI Abstract

search
+
Detection of H3F3A K27M or BRAF V600E in liquid biopsies of brain tumor patients as diagnostic and monitoring biomarker: impact of tumor localization and sampling method
Detection of H3F3A K27M or BRAF V600E in liquid biopsies of brain tumor patients as diagnostic and monitoring biomarker: impact of tumor localization and sampling method
Gliomas are the most common brain tumor type in children and adolescents. To date, diagnosis and therapy monitoring for th...
Essential tremor with tau pathology features seeds indistinguishable in conformation from Alzheimer’s disease and primary age-related tauopathy
Essential tremor with tau pathology features seeds indistinguishable in conformation from Alzheimer’s disease and primary age-related tauopathy
Neurodegenerative tauopathies are characterized by the deposition of distinct fibrillar tau assemblies, whose rigid core s...
White matter pathology in FTLD caused by mutations
White matter pathology in FTLD caused by mutations
This work was funded by grants from the Alzheimer’s Association US (016580) and the National Institutes of Health (UAG0639...
Concurrent RB1 and P53 pathway disruption predisposes to the development of a primitive neuronal component in high-grade gliomas depending on MYC-driven EBF3 transcription
Concurrent RB1 and P53 pathway disruption predisposes to the development of a primitive neuronal component in high-grade gliomas depending on MYC-driven EBF3 transcription
The foremost feature of glioblastoma (GBM), the most frequent malignant brain tumours in adults, is a remarkable degree of...
Comparison of the amyloid plaque proteome in Down syndrome, early-onset Alzheimer’s disease, and late-onset Alzheimer’s disease
Comparison of the amyloid plaque proteome in Down syndrome, early-onset Alzheimer’s disease, and late-onset Alzheimer’s disease
Down syndrome (DS) is strongly associated with Alzheimer’s disease (AD) due to APP overexpression, exhibiting Amyloi...
MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma
MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma
Pediatric high-grade glioma (pedHGG) can occur as first manifestation of cancer predisposition syndromes resulting from pa...
IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread
IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread
IDH-mutant astrocytomas are diffuse gliomas that are defined by characteristic mutations in IDH1 or IDH2 and do not have c...
Somatic variants in leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Somatic variants in leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new histopathological...
fusion driver in primary central nervous system malignancy: case report
fusion driver in primary central nervous system malignancy: case report
Andreiuolo F, Varlet P, Tauziède-Espariat A, Jünger ST, Dörner E et al (2019) Childhood supratentorial ependymomas with YA...
Perivascular glial reactivity is a feature of phosphorylated tau lesions in chronic traumatic encephalopathy
Perivascular glial reactivity is a feature of phosphorylated tau lesions in chronic traumatic encephalopathy
Chronic traumatic encephalopathy (CTE), a neurodegenerative disease associated with repetitive head injuries, is character...
A novel fusion that potentially expands the concept of supratentorial ependymoma, fusion-positive
A novel fusion that potentially expands the concept of supratentorial ependymoma, fusion-positive
Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4....
Brain tissue metal concentrations and Alzheimer’s disease neuropathology in total joint arthroplasty patients versus controls
Brain tissue metal concentrations and Alzheimer’s disease neuropathology in total joint arthroplasty patients versus controls
We examined whether total joint arthroplasty (TJA) is associated with increased metal accumulation in the brain and histop...
Microglia aggregates define distinct immune and neurodegenerative niches in Alzheimer's disease hippocampus
Microglia aggregates define distinct immune and neurodegenerative niches in Alzheimer's disease hippocampus
In Alzheimer’s disease (AD), microglia form distinct cellular aggregates that play critical roles in disease progres...
A quantitative Lewy-fold-specific alpha-synuclein seed amplification assay as a progression marker for Parkinson’s disease
A quantitative Lewy-fold-specific alpha-synuclein seed amplification assay as a progression marker for Parkinson’s disease
Misfolded α-synuclein (αSyn) is the hallmark of α-synucleinopathies such as Parkinson’s disease (PD),...
Evidence of COMT dysfunction in the olfactory bulb in Parkinson’s disease
Evidence of COMT dysfunction in the olfactory bulb in Parkinson’s disease
Hyposmia is one of the most prevalent non-motor symptoms of Parkinson’s disease and antecedes motor dysfunction by u...
Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model
Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model
Atypical wild-type superoxide dismutase 1 (SOD1) protein misfolding and deposition occurs specifically within the degenera...
Human brain tissue with MOGHE carrying somatic variants reveal aberrant protein expression and protein loss in the white matter
Human brain tissue with MOGHE carrying somatic variants reveal aberrant protein expression and protein loss in the white matter
Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) is a recently described di...
Characterizing white matter and vascular pathologies in brain donors exposed to repetitive head impacts
Characterizing white matter and vascular pathologies in brain donors exposed to repetitive head impacts
Chronic traumatic encephalopathy (CTE) is a progressive brain disease linked to repetitive head impacts (RHI), often incur...
A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation
A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation
Diffuse midline gliomas (DMG) H3 K27-altered are incurable grade 4 gliomas and represent a major challenge in neuro-oncolo...
G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons
G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons
The G4C2 repeat expansion in the C9orf72 gene is the most common genetic cause of Amyotrophic Lateral Sclerosis and Fronto...
Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss
Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss
Multiple sclerosis (MS) is the most frequent inflammatory and demyelinating disease of the CNS. The disease course in MS i...
The neuropathology of intimate partner violence
The neuropathology of intimate partner violence
Lifelong brain health consequences of traumatic brain injury (TBI) include the risk of neurodegenerative disease. Up to on...
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 22042–26042
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 22042–26042
In the recent 2021 CNS5 WHO classification, molecular alterations were introduced int...
PLAG1 fusions extend the spectrum of PLAG(L)-altered CNS tumors
PLAG1 fusions extend the spectrum of PLAG(L)-altered CNS tumors
Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, 1, Rue Cabanis, 75014, Paris, ...
Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career
Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career
School of Psychology and Neuroscience, University of Glasgow, Glasgow, G12 8QQ, UKWilliam Stewart, Shannon Gilchrist &...
Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations
Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations
Department of Pediatrics, Michigan Medicine, Ann Arbor, MI, USAHolly J. Roberts, Sunjong Ji, Rodrigo Cartaxo, Santhosh A. ...
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Histopathologic brain age estimation via multiple instance learning
Histopathologic brain age estimation via multiple instance learning
Understanding age acceleration, the discordance between biological and chronological age, in the brain can reveal mechanis...
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis
Bahuau M, Vidaud D, Jenkins RB, Bièche I, Kimmel DW, Assouline B et al (1998) Germ-line deletion involving the INK4 locus ...
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis
Inclusion body myositis (IBM) is unique across the spectrum of idiopathic inflammatory myopathies (IIM) due to its distinc...
Load More
format_indent_increase