Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
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
Navigating the digital era: The impact of digitalization and work-life harmony on well-being among solo self-employed individuals. [PDF]
Jo H, Ahn H.
europepmc +1 more source
Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl +6 more
wiley +1 more source
Optimization of icterus interference thresholds for 45 parameters on the Atellica analyzers CH930 and IM1300. [PDF]
Leleu D, Denimal D, Duvillard L.
europepmc +1 more source
Trajectories of Physical Function in Canadian Children With Juvenile Idiopathic Arthritis
Objective We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham +81 more
wiley +1 more source
ILA-CSMA: Hybrid Sensing and Adaptive Fair Backoff for Large-Scale LoRa Networks. [PDF]
Cheng W, Cui H, Yu H.
europepmc +1 more source
Objective The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögren's International Collaborative Clinical Alliance (SICCA) cohort. Methods We performed a retrospective analysis examining 16 ocular symptoms (most graded 0–4) and artificial tear (AT) use (graded 0–3) as predictors of DED signs (abnormal ocular ...
Pragnya R. Donthineni +7 more
wiley +1 more source
Influence of stimulus material and effector specificity on performance in the measurement of interference control in adolescent handball and soccer players compared to non-player controls. [PDF]
Heilmann F, Langsdorf LE, Schubert T.
europepmc +1 more source
Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich +35 more
wiley +1 more source
Pain, function, and acute neuropathic pain up to one month after surgery: a registry-based analysis. [PDF]
Garduño-López AL +23 more
europepmc +1 more source

