Results 151 to 160 of about 5,842,410 (204)
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
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 +7 more
wiley +1 more source
Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli +13 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart +5 more
wiley +1 more source
When large and severe disturbances affect mountain forests, their ability to provide fundamental ecosystem services may be impaired for a long time. Indeed, in the Alps, forested slopes exert a crucial protective function and rapidly restoring the forest
Emanuele Lingua +9 more
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Arthritis Care &Research, Accepted Article.Biomedical research involving United States Veterans continues to advance healthcare beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where Veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both ...
Austin M. Wheeler +20 more
wiley +1 more source
Advanced Engineering Materials, EarlyView.Low‐cycle fatigue damage in Mn–Mo–Ni reactor pressure vessel steel is examined using a combined electron backscatter diffraction and positron annihilation lifetime spectroscopy approach. The study correlates texture evolution, dislocation substructure development, and vacancy‐type defect formation across uniform, necked, and fracture regions, providing
Apu Sarkar +2 more
wiley +1 more source
The Long-Term Algae Extract (Chlorella and Fucus sp) and Aminosulphurate Supplementation Modulate SOD-1 Activity and Decrease Heavy Metals (Hg++, Sn) Levels in Patients with Long-Term Dental Titanium Implants and Amalgam Fillings Restorations. [PDF]
Antioxidants (Basel), 2019 Merino JJ +3 more
europepmc +1 more source
Advanced Engineering Materials, EarlyView.We develop a data‐driven method to derive the mathematical expressions of the Flory–Huggins interaction parameter χ for the swelling behavior of temperature–responsive hydrogels. Starting from initial assumptions of χ, our workflow combines Bayesian optimization, Flory–Rehner theory, and symbolic regression to generate candidate χ expressions.
Yawen Wang +2 more
wiley +1 more source