Results 91 to 100 of about 947 (217)
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
How often should dead-reckoned animal movement paths be corrected for drift? [PDF]
Anim Biotelemetry, 2021 Gunner RM +30 more
europepmc +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
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
Journal of Marine Science and EngineeringAccurate and reliable positioning is essential for unmanned marine vehicles (UMVs), especially in complex maritime environments. Existing algorithms often underutilize historical information, struggle with nonlinear dynamics, and lack adaptability in the
Yi Jiang +6 more
doaj +1 more source
The Fight to Dismantle Systemic Racism and for Racial Justice in Delaware As Seen Through the Eyes of the Delaware Racial Justice Collaborative. [PDF]
Dela J Public Health, 2022 Kauffman E, Allen R.
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Honey bees infer source location from the dances of returning foragers. [PDF]
Proc Natl Acad Sci U S A, 2023 Wang Z +7 more
europepmc +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
Application of interacting multiple model in integrated positioning system of vehicle
Journal of Measurement Science and Instrumentation, 2018 To solve low precision and poor stability of the extended Kalman filter（EKF）in the vehicle integrated positioning system owing to acceleration,deceleration and turning（hereinafter referred to as maneuvering）,the paper presents an adaptive filter ...
WEI Wen-jun +3 more
doaj