Results 81 to 90 of about 230,702 (311)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals 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

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals 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

Effect of hydro-ethanolic extract of Chamaemelum nobile on cell prolifration and apoptosis of rat hipocample neural stem cells in the oxitative stress condition

open access: yesمجله دانشگاه علوم پزشکی گرگان, 2014
Background and Objective: Neural stem cells can difrentiate to mature neural cells. Neural stem cells can migrate and repair the damage neural tissue. This study was done to determine the effect of hydro-ethanolic extract of Chamaemelum nobile on cell ...
Abdanipour A   +3 more
doaj  

Enhanced neurogenesis after ischemic stroke: The interplay between endogenous and exogenous stem cells

open access: yesNeural Regeneration Research
Ischemic stroke is a significant global health crisis, frequently resulting in disability or death, with limited therapeutic interventions available.
Ruxu Geng   +4 more
doaj   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem   +17 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

Aging differentially affects male and female neural stem cell neurogenic properties

open access: yesStem Cells and Cloning: Advances and Applications, 2010
Jay Waldron1, Althea McCourty1, Laurent Lecanu1,21The Research Institute of the McGill University Health Centre, Montreal, Canada; 2Department of Medicine, McGill University, Montreal, Quebec, CanadaPurpose: Neural stem cell transplantation as a brain ...
Jay Waldron   +2 more
doaj  

Enhancing neural stem cell integration in the injured spinal cord through targeted PTEN modulation

open access: yesNeural Regeneration Research
Spinal cord injury results in permanent loss of neurological functions due to severance of neural networks. Transplantation of neural stem cells holds promise to repair disrupted connections.
Simay Genişcan   +8 more
doaj   +1 more source

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