Results 101 to 110 of about 1,835,297 (301)
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
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Field Experiments for Wind Loads on a Low-Rise Building with Adjustable Pitch
International Journal of Distributed Sensor Networks, 2012 A wind engineering research field laboratory, which consists of a full-scale low-rise building and two towers, has been constructed by Tongji University near Shanghai Pudong International Airport to study the characteristics of near-ground wind field and
Peng Huang, Xu Wang, Ming Gu
doaj +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
MATEC Web of Conferences, 2018 One of the promising areas of improving the constructive and technological solutions of low-rise buildings is the fast-erecting systems. Increase of efficiency of the erection process of these systems can be implemented on the basis of the results of a ...
Korol Elena, Pleshivcev Alexander
doaj +1 more source
Reinforced Sandy Piles for Low-rise Buildings
Procedia Engineering, 2015 AbstractAt present a number of techniques for artificial strengthening weak foundation soils have been developed and implemented, most of them having poor efficiency due to expensive materials and equipment used. Therefore, studying and developing new ways to improve soil bearing capacity is an urgent task.
Tatyana, Maltseva +2 more
openaire +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi +5 more
wiley +1 more source
Sex Differences in Medication Discontinuation in Axial Spondyloarthritis
Arthritis Care &Research, EarlyView.Objective We examined sex differences in medication discontinuation among patients with axial spondyloarthritis (axSpA) initiating tumor necrosis factor inhibitors (TNFi), interleukin‐17 inhibitors (IL‐17i), or JAK inhibitors (JAKi). Methods Using data from the Rheumatology Informatics System for Effectiveness (RISE) Registry (2003–2025), we assessed ...
Rachael Stovall +9 more
wiley +1 more source