Results 41 to 50 of about 15,815 (264)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.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
DiversityWind power is commonly used to reduce greenhouse gas emissions but often has negative effects on biodiversity. In this study, I investigated the effects of wind farm and power line construction on the territory status of the Eurasian goshawk Accipiter ...
Magne Husby
doaj +1 more source
Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer +11 more
wiley +1 more source
Dynamics of soliton explosions in a polarization-multiplexed ultrafast fiber laser
Results in Physics, 2023 Soliton explosions are among the most striking soliton phenomena in nonlinear dissipative systems. In this regime, quasi-stable solitons suffer abrupt structural collapses and then recover to their original state.
Junwen Li +5 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
HydrogenAs one of the most promising clean energy sources, hydrogen power has gradually emerged as a viable alternative to traditional energy sources. However, hydrogen safety remains a significant concern due to the potential for explosions and the associated ...
Yan-Quan Sun
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
Energy Science & EngineeringThis study investigated the combustion characterization of Petroleum Motor Spirit (PMS) and Liquefied Petroleum Gas (LPG) due to fuel tanker explosions in Nigeria using Aspen Plus software. The simulation characterized and determined the emission factors
Francis B. Elehinafe +5 more
doaj +1 more source