Results 71 to 80 of about 409,945 (260)
Association between Neuroimaging Scores and Clinical Status in Pediatric Patients Diagnosed with Metachromatic Leukodystrophy [PDF]
Annals of Child NeurologyPurpose Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by arylsulfatase A deficiency, which leads to progressive demyelination in both the central and peripheral nervous systems, resulting in significant gross motor ...
Sunho Lee, Ji Hoon Na, Young-Mock Lee
doaj +1 more source
Empowering Adult Learning How AI Fuels Progress Across Disciplines and Professions
New Directions for Adult and Continuing Education, EarlyView.ABSTRACT This article examines the evolving role of artificial intelligence (AI) as a transformative cognitive partner across educational and professional fields. It explores how AI shifts attention away from routine technical tasks and toward human‐centered skills such as critical thinking, ethical decision‐making, and professional judgment.
Rachel Wlodarsky
wiley +1 more source
Altering rRNA 2’O-methylation pattern during neuronal differentiation is regulated by FMRP
RNA BiologyThe Fragile X Messenger Ribonucleoprotein (FMRP) is a selective RNA-binding protein that localizes to the cytoplasm and the nucleus. The loss of FMRP results in Fragile X Syndrome (FXS), an autism spectrum disorder.
Michelle Ninochka D’Souza +5 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Communications BiologyOver the course of evolution, the amygdala (AMG) and medial frontal cortex (mPFC) network, involved in behavioral adaptation, underwent structural changes in the old-world monkey and human lineages.
Camille Giacometti +8 more
doaj +1 more source
Torticollis as a Rare Presentation of Cerebellopontine Angle Choroid Plexus Papilloma in Children [PDF]
Iranian Journal of Neurosurgery, 2020 Background and Importance: The rare intracranial neoplasms are Choroid Plexus Papillomas (CPPs), especially in the cerebellopontine angle. The main location of choroid plexus papillomas in adults and children are 4th ventricle and lateral ventricles ...
Mohammad Faraji-Rad +2 more
doaj
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
SP8 Transcriptional Regulation of Cyclin D1 During Mouse Early Corticogenesis
Frontiers in Neuroscience, 2018 Multiple signals control the balance between proliferation and differentiation of neural progenitor cells during corticogenesis. A key point of this regulation is the control of G1 phase length, which is regulated by the Cyclin/Cdks complexes.
Ugo Borello +5 more
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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source