Results 211 to 220 of about 169,763 (304)

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

Literature horizon scan for new scientific data on plants, microorganisms and animals, and their products obtained by new genomic techniques (October 2025). [PDF]

open access: yesEFSA J
European Food Safety Authority (EFSA)   +12 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang   +10 more
wiley   +1 more source

Safety evaluation of an extension of use of the food enzyme subtilisin from the genetically modified <i>Bacillus licheniformis</i> strain NZYM-CB. [PDF]

open access: yesEFSA J
EFSA Panel on Food Enzymes (FEZ)   +15 more
europepmc   +1 more source

A REVIEW: GENETICALLY MODIFIED PLANTS

open access: yesMINAR International Journal of Applied Sciences and Technology
openaire   +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

Assessment of additional information related to genetically modified oilseed rape MS11 (application EFSA-GMO-BE-2016-138). [PDF]

open access: yesEFSA J
EFSA Panel on Genetically Modified Organisms (GMO)   +22 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang   +8 more
wiley   +1 more source

The GMOseek matrix: a decision support tool for optimizing the detection of genetically modified plants. [PDF]

open access: yesBMC Bioinformatics, 2013
Block A   +17 more
europepmc   +1 more source

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