Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Unraveling the corrosion-mitigating action of cyclobenzaprine hydrochloride on carbon steel in acidic media: integrated experimental and multiscale molecular perspectives. [PDF]
Ibrahim MAM +3 more
europepmc +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
Experimental and theoretical insights into the inhibitory capabilities of polythiophene and polypyrrole molecules for protecting mild steel from corrosion in sulfuric acid. [PDF]
Abdallah M +8 more
europepmc +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Sustainable Imidazolines Derived from Waste Cooking Oil for Corrosion and Paraffin Wax Inhibition in Petroleum Industry. [PDF]
Edlabadkar VA +10 more
europepmc +1 more source
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao +6 more
wiley +1 more source
Corrosion inhibition of ductile iron in hydrochloric acid using 5-amino-1,3,4-thiadiazole-2-thiol: electrochemical and computational studies. [PDF]
Helmy M +5 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
Pyrazolo-triazole/hydrazono ester EPMT as a mixed-type corrosion inhibitor for low-carbon steel in 0.5 M HCl: electrochemical, surface, and computational evidence. [PDF]
El-Bana GG +7 more
europepmc +1 more source

