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Open AccessOligodendrocyte lineage is severely affected in human alcohol-exposed foetuses
Prenatal alcohol exposure is a major cause of neurobehavioral disabilities. MRI studies in humans have shown that alcohol is associated with white matter microstructural anomalies but these studies focused on ...
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Article
Open AccessA postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subty...
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Article
Impact of intertendinous connections between the flexor digitorum brevis and longus on percutaneous tenotomy for the treatment of claw toes: an anatomic and ultrasound study
Selective percutaneous tenotomy of the flexor digitorum longus (FDL) is a treatment for claw toes that gives astonishingly good functional results despite tendon sacrifice. However, the involution of the FDL t...
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Article
Open AccessNeuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
The prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are bas...
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Article
Open AccessMuscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging
Duchenne muscular dystrophy (DMD) is a common and severe X-linked myopathy, characterized by muscle degeneration due to altered or absent dystrophin. DMD has no effective cure, and the underlying molecular mec...
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Article
Open AccessPrenatal alcohol exposure is a leading cause of interneuronopathy in humans
Alcohol affects multiple neurotransmitter systems, notably the GABAergic system and has been recognised for a long time as particularly damaging during critical stages of brain development. Nevertheless, data ...
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Article
Open AccessCell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma
The clinical implications of plasmatic cell-free and tumor DNA (cfDNA and ctDNA) are challenging in glioblastoma. This prospective study included 52 consecutive newly diagnosed glioblastoma (n = 49) or gliosar...
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Article
Open AccessSimultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma
Epidermal growth factor receptor (EGFR) amplification and EGFR variant III (EGFRvIII, deletion of exons 2–7) are of clinical interest for glioblastoma. The aim was to develop a digital PCR (dPCR)-based method usi...
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Article
Open AccessFoetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
Bi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative diso...
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Article
Open AccessMosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas
The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. W...
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Article
A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling
Ultra-high-resolution imaging mass spectrometry using matrix-assisted laser desorption ionization (MALDI) MS coupled to a Fourier transform ion cyclotron resonance (FTICR) mass analyzer is a powerful technique...
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Article
Stereotactic brain biopsy: evaluation of robot-assisted procedure in 60 patients
Frameless stereotactic biopsies, particularly robot-assisted procedures are increasing in neurosurgery centers. Results of these procedures should be at least equal to or greater than frame-based reference pro...
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Article
Early platelet variation during concomitant chemo-radiotherapy predicts adjuvant temozolomide-induced thrombocytopenia in newly diagnosed glioblastoma patients
Temozolomide (TMZ) is known to induce thrombocytopenia but no early predictive test has yet been clearly established. The aim of the study was to retrospectively identify and validate a threshold of early plat...
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Article
Spinal meningioma and factors predictive of post-operative deterioration
Spinal meningiomas are slow-growing intradural-extramedullary tumors. They are usually associated with good outcomes. However, there are few descriptions of factors predictive of impaired evolution. Our object...
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Article
Pseudo-Sarcoidosis Revealing MonoMAC Syndrome
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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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Article
Open AccessHMGA2 immunostaining is a straightforward technique which helps to distinguish pulmonary fat-forming lesions from normal adipose tissue in small biopsies: a retrospective observational study about a series of 13 lung biopsies
A tracheobronchial lesion observed during an endoscopic examination is usually sampled by the pulmonologist and sent to the pathologist for microscopic examination. Adipocytes may be observed in the lamina pro...
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Open AccessPrenatal alcohol exposure impairs autophagy in neonatal brain cortical microvessels
Brain developmental lesions are a devastating consequence of prenatal alcohol exposure (PAE). We recently showed that PAE affects cortical vascular development with major effects on angiogenesis and endothelia...
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Article
Pyridoxine-dependent epilepsy: report on three families with neuropathology
Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is ofte...
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Article
Endoplasmic reticulum stress, unfolded protein response and development of colon adenocarcinoma
When misfolded proteins accumulate in the endoplasmic reticulum (ER), the cell is said to experience ER stress. This triggers an unfolded protein response (UPR) to restore the balance between misfolded protein...
