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 decentralized power injection-based approach for voltage imbalance mitigation in three-phase distribution networks. [PDF]
Tsobze SK +8 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
GrCRA PCRTAM net based hybrid approach for intelligent control and optimal power management in renewable integrated power distribution systems. [PDF]
Arulkumar S +8 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
Rate-Sensing Performance of Imperfect Capacitive Ring-Based MEMS Coriolis Vibrating Gyroscopes at Large Drive Amplitudes. [PDF]
Arifin D, McWilliam S.
europepmc +1 more source
Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund +3 more
wiley +1 more source
Influence of Control System Architecture on Mobile Robot Stability and Performance. [PDF]
Salwa M, Krzysztofik I.
europepmc +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
Pushing the Detailed Balance Limit in III-V Semiconductor Photoconversion with Bandgap-Engineering Multijunction Architectures. [PDF]
Gao X +6 more
europepmc +1 more source

