Results 71 to 80 of about 363,412 (308)
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Electronic Journal of Plant Breeding, 2020 Seeds of cowpea (Vigna unguiculata (L.) Walp) variety CO 7 and Tirunelveli local were treated with gamma ray doses at 150, 200, 250, 300 and 350 Gy and EMS (Ethyl Methane Sulphonate) doses at 5, 10, 15, 20 and 25 mM.
M. Preethi and A. Muthuswamy
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin +11 more
wiley +1 more source
Ambulance traffic accidents and their impact on prehospital personnel: a mixed-methods study
Scandinavian Journal of Trauma, Resuscitation and Emergency MedicineObjective Prehospital personnel operate in environments with a significant risk of on-duty traffic accidents. We investigated the prevalence and characteristics of on-duty ambulance traffic accidents and explored how prehospital personnel perceive and ...
Marianne Winther +12 more
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Modelling the relationship between visual short-term memory capacity and recall ability [PDF]
, 2008 Previous cognitive modelling work has suggested that the decline of short-term memory (STM) capacity is the dominant factor of age-related decline on recall ability. We report the results of a set of experiments investigating in further detail the effect
Gobet, F, Lane, PCR, Smith, RL
core +1 more source
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth +8 more
wiley +1 more source
Sustainable Ceramics: Creating Effective Key Performance Indicators for Industry Monitoring [PDF]
E3S Web of ConferencesSustainable development in the ceramic industry focuses on meeting present needs without compromising future resources. Key strategies include recycling waste, improving energy efficiency, and adopting green technologies.
Sharma Manni +7 more
doaj +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