Results 181 to 190 of about 4,548,181 (253)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui   +7 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

High‐Resolution Corrosion Fingerprinting of Alloy Libraries via Microdroplet Spectroelectrochemistry

Advanced Engineering Materials, EarlyView.
Ionic‐liquid microdroplet spectroelectrochemistry enables stable, localized electrochemical measurements over extended timescales. By coupling impedance spectroscopy, wetting analysis, finite‐element simulations, and operando Raman spectroscopy, it disentangles geometrical and electrochemical effects, opening new opportunities for rapid corrosion ...
Ekaterina Kurchavova, Oumaïma Gharbi, Mireille Turmine, Vincent Vivier   +3 more
wiley   +1 more source

Superlubricity and Corrosion Inhibition Properties of Solvate Ionic Liquids in Hybrid Carbon Fiber Reinforced Plastic–Steel Interfaces

Advanced Engineering Materials, EarlyView.
Solvate ionic liquids lubrication reduced the coefficient of friction by ∼60% compared to dry sliding, reaching steady‐state values as low as 0.04–0.05. Corrosion weight‐loss measurements in 1 M HCl further demonstrated significant inhibition behavior, with only 100 ppm of [Li(G3)][TFSI] (∼68.5 μL/L) reducing corrosion‐product weight loss by 63 ...
Sameh Dabees, Timothy Harte, Bhagya Dharmasiri, Y. Athulya Wickramasingha, David J. Hayne, Daniel J. Eyckens, Luke C. Henderson   +6 more
wiley   +1 more source

Adaptive Foam 3D Printing of Ultralight and Multifunctional Materials

Advanced Engineering Materials, EarlyView.
Adaptive foam 3D printing, enabled by expandable microspheres, imparts cellular structures to thermoplastic and thermosetting polymers, manufactured through a variety of processes including fused filament fabrication, direct ink writing, digital light processing, and inkjet printing.
Nariman Rajabifar, Amir Ameli
wiley   +1 more source

Fabrication Routes for Ionic Conducting Fiber Strain Sensors

Advanced Engineering Materials, EarlyView.
Ionic conducting fiber strain sensors (ICFSs) offer compliant, textile‐integrable sensing. Thus far, the commercialization of ICFSs has been constrained by fiber fabrication routes. This review provides a fabrication‐centric analysis of ICFSs correlating processing strategies with material properties and scalability.
Leo John Kershaw, Zhanhong Yang, Anne Ladegaard Skov, Magdalena Skowyra   +3 more
wiley   +1 more source

FastNano Liquid: An Automated Platform for Small‐Angle X‐ray Scattering‐Based Materials Discovery

Advanced Engineering Materials, EarlyView.
We present FastNano Liquid, an automated small‐ and wide‐angle X‐ray scattering platform for the combined synthesis and characterization of (nano)materials. The platform is coupled to varied reactor workflows for both in situ studies of reaction kinetics and ex situ screening of synthesis conditions to support machine learning‐guided exploration ...
Pierre‐Baptiste Flandrin, Émeline Cournède, Jens Krarup, Michael Lesa, Foyzul Hasan, Amandine Séné, Arnaud Lahouati, David Benhaiem, Jérémie‐Luc Sanchez, Simon Delacroix, Thierry Gacoin, Fabienne Testard, Damien Faivre, David Carriere, Corinne Chevallard, Olivier Taché, Mark A. Levenstein   +16 more
wiley   +1 more source

Biomass Native Structure Into Functional Carbon‐Based Catalysts for Fenton‐Like Reactions

Advanced Functional Materials, EarlyView.
This study indicates that eight biomasses with 2D flaky and 1D acicular structures influence surface O types, morphology, defects, N doping, sp2 C, and Co nanoparticles loading in three series of carbon, N‐doped carbon, and cobalt/graphitic carbon. This work identifies how these structural factors impact catalytic pathways, enhancing selective electron
Wenjie Tian, Jingkai Lin, Zhihao Tian, Selusiwe Ncube, Huayang Zhang, Emiliano Cortés, Hongqi Sun, Shaobin Wang   +7 more
wiley   +1 more source