26 Result(s)
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Homa Adle-Biassette
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Article
Open AccessTargeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy
Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic mosaicism due to post-zy...
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Article
Oncological, cognitive, and employment outcomes in a series of patients with IDH-mutated glioma resected following neoadjuvant chemotherapy
Maximal safe tumor resection is the first line of treatment for IDH-mutated gliomas. However, when upfront surgical resection is deemed unsatisfactory due to tumor size and location, chemotherapy could represe...
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Article
Open AccessAutoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia
Autoantibodies (auto-Abs) neutralizing type I interferons (IFNs) are found in the blood of at least 15% of unvaccinated patients with life-threatening COVID-19 pneumonia. We report here the presence of auto-Ab...
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Open AccessA deep learning-based histopathology classifier for Focal Cortical Dysplasia
A light microscopy-based histopathology diagnosis of human brain specimens obtained from epilepsy surgery remains the gold standard to confirm the underlying cause of a patient’s focal epilepsy and further inf...
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Open AccessCNS neuroblastoma, FOXR2-activated and its mimics: a relevant panel approach for work-up and accurate diagnosis of this rare neoplasm
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Article
Open AccessThe dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile
The International Society for the Study of Vascular Anomalies (ISSVA) has defined four vascular lesions in the central nervous system (CNS): arteriovenous malformations, cavernous angiomas (also known as cereb...
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Correction to: Atypical evolution of meningiomatosis after discontinuation of cyproterone acetate: clinical cases and histomolecular characterization
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Article
Atypical evolution of meningiomatosis after discontinuation of cyproterone acetate: clinical cases and histomolecular characterization
The long-term use of cyproterone acetate (CPA) is associated with an increased risk of develo** intracranial meningiomas. CPA discontinuation most often induces a stabilization or regression of the tumor. Th...
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Article
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation
Dandy–Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiologica...
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Article
Open AccessFrequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Focal malformations of cortical development (MCD) are linked to somatic brain mutations occurring during neurodevelopment. Mild malformation of cortical development with oligodendroglial hyperplasia in epileps...
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Article
Open AccessDissecting the genetic basis of focal cortical dysplasia: a large cohort study
Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe pediatric refractory epilepsies subjecte...
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Article
Multimodal techniques failed to detect cytomegalovirus in human glioblastoma samples
The role of the human cytomegalovirus (HCMV) in gliomagenesis is largely debated. Contradictory data exist regarding the sensitivity and specificity of HCMV detection techniques, including immunohistochemistry...
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Article
Increased PKR level in human CADASIL brains
Cerebral autosomal dominant arteriolopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is the most common form of hereditary small vessel disease (SVD) of the brain. Neuronal apoptosis has been...
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Article
Open AccessA de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
Extreme microcephaly and rhombencephalosynapsis represent unusual pathological conditions, each of which occurs in isolation or in association with various other cerebral and or extracerebral anomalies. Unlike...
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Article
Fatal Aβ cerebral amyloid angiopathy 4 decades after a dural graft at the age of 2 years
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Article
Open AccessGABAA receptor subunit deregulation in the hippocampus of human foetuses with Down syndrome
The function, regulation and cellular distribution of GABAA receptor subunits have been extensively documented in the adult rodent brain and are linked to numerous neurological disorders. However, there is a surp...
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Article
Open AccessHydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital h...
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Viral Infections
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Bacterial Infections
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Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiolog...
