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
Parental Intention for Health Promotion in Children with Disabilities: Extending the Theory of Planned Behavior with Parenting Stress. [PDF]
Park J, Ryu S.
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
Factors influencing the implementation of cardiopulmonary resuscitation among college freshmen: Based on the Theory of Planned Behavior. [PDF]
Wei Q +7 more
europepmc +1 more source
Global genomic and antimicrobial resistance profiling of Neisseria gonorrhoeae: Insights from whole genome sequencing and minimum inhibitory concentration analysis. [PDF]
Ebrahimi E +6 more
europepmc +1 more source
Semi analytical solution strategy for fractional Fornberg Whitham equation using Temimi Ansari method. [PDF]
Arafa AAM +5 more
europepmc +1 more source
On the solution for a nonlinear wave equation with variable exponent nonlinearity and a varying delay. [PDF]
Benguessoum A +3 more
europepmc +1 more source
The Development of a Wearable-Based System for Detecting Shaken Baby Syndrome Using Machine Learning Models. [PDF]
Mishra RK +5 more
europepmc +1 more source
Individual differences in motives for costly punishment. [PDF]
Claessens S, Atkinson QD, Raihani NJ.
europepmc +1 more source

