Results 31 to 40 of about 167,758 (218)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals 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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
Annals of Clinical and Translational Neurology, EarlyView.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
A ridge-loaded staggered double-vane slow wave structure for terahertz radiation sources
Scientific ReportsA ridge-loaded staggered double-vane slow-wave structure is proposed for terahertz radiation sources employing a sheet electron beam. This slow-wave structure has the advantages of enhanced electric field and energy density distribution and improved ...
Jibran Latif +5 more
doaj +1 more source
Numerical Simulation of Solitary Wave Induced Flow Motion around a Permeable Submerged Breakwater
Journal of Applied Mathematics, 2012 This paper presents a numerical model for the simulation of solitary wave transformation around a permeable submerged breakwater. The wave-structure interaction is obtained by solving the Volume-Averaged Reynolds-Averaged Navier-Stokes governing ...
Jisheng Zhang +3 more
doaj +1 more source
Role of Trapped Air on the Tsunami-Induced Transient Loads and Response of Coastal Bridges
Geosciences, 2019 In response to the extensive damage of coastal bridges sustained in recent tsunamis, this paper describes an investigation into tsunami-induced effects on two common bridge types, an open-girder deck with cross-frames and one with solid diaphragms.
Denis Istrati, Ian Buckle
doaj +1 more source
Applied Sciences, 2021 The interaction between subway tunnels is investigated by using a 2D analytic model of a twin tunnels system embedded in a homogenous half-space. The closed-form analytical solution for tunnel displacement response is derived through the wave function ...
Liguo Jin +3 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Evaluation of the Viscous Drag for a Domed Cylindrical Moored Wave Energy Converter
Journal of Marine Science and Engineering, 2019 Viscous drag, nonlinear in nature, is an important aspect of the fluid−structure interaction modelling and is usually not taken into account when the fluid is assumed to be inviscid. Potential flow solvers can competently compute radiation damping,
Majid A Bhinder, Jimmy Murphy
doaj +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source