Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
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
A Case for Dynamic Percolation Underlying Mechanistic Crossovers in the Relaxation of Liquids. [PDF]
Cicerone MT +4 more
europepmc +1 more source
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Cell Membrane-Targeted Antibacterial Synergy of Citric Acid-Sodium Hypochlorite Against <i>Salmonella</i> Typhimurium on Cherry Tomatoes. [PDF]
Yin T +6 more
europepmc +1 more source
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
Deep Learning-Based Image Reconstruction in Musculoskeletal MRI. [PDF]
Yoo HJ.
europepmc +1 more source
Comparison of Subconjunctival Triamcinolone with Topical Prednisolone for Routine Anti-Inflammatory Prophylaxis in Manual Small Incision Cataract Surgery: A Single-Center, Randomized Controlled Trial Pilot Protocol. [PDF]
Papa-Vettorazzi R +5 more
europepmc +1 more source
Single-Carbon Bridged Pentacene Dimers Enable Efficient Singlet Fission and Quintet State Stabilization. [PDF]
Hsu CH +12 more
europepmc +1 more source
Quantifying variability of mitochondrial markers in m3243A > G myopathy. [PDF]
Bernardino Gomes TM +7 more
europepmc +1 more source

