Results 131 to 140 of about 68,097 (255)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Parthenolide Attenuates Skeletal Muscle Atrophy Through Regulation of Protein Homeostasis and Inhibition of Inflammation. [PDF]

open access: yesFASEB J
Bai Y   +12 more
europepmc   +1 more source

Noni (Morinda citrifolia) Seed Oil: Phytochemical Composition, Bioactivity, and Emerging Applications in Food and Health

open access: yesFood Chemistry International, EarlyView.
Noni seed oil from Morinda citrifolia, highlighting its bioactive composition, conventional and green extraction methods, and major stability challenges. Encapsulation strategies improve oxidative stability and bioavailability, along with potential applications in functional foods and cosmetics, and key barriers to large‐scale commercialization ...
Sumidha Palanisamy   +4 more
wiley   +1 more source

Electronic jelly: Engineering the mechanics of hydrogels for flexible electronics

open access: yesFlexMat, EarlyView.
By unifying mechanical reinforcement strategies—double networks, structural ordering, and dynamic interactions—this review demonstrates how engineered hydrogels can transcend their fragility to achieve the strength, toughness, and reliability required for flexible electronics, including wearable sensors, energy devices, and soft robotic systems ...
Tianfu Zheng   +2 more
wiley   +1 more source

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