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
Patient-derived lung tumoroids reveal determinants of CAR T cell efficacy in solid tumors. [PDF]
Farrera-Sal M +2 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
Analytical Quality by Design-Guided Optimisation and Validation of a Short-Run Stability-Indicating Reverse-Phase Ultra-Fast Liquid Chromatography (RP-UFLC) Method for the Quantitation of Nonivamide. [PDF]
Mahlangu P +3 more
europepmc +1 more source
E. Cardellach +8 more
semanticscholar +1 more source
The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley +1 more source
Model organism futures in precision toxicology: tracking the emergence of a research repertoire. [PDF]
Ankeny RA, Leonelli S.
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
The Gut-Liver Axis in Metabolic Dysfunction-Associated Steatotic Liver Disease: From Mechanistic Insights to Precision Therapeutics. [PDF]
Zhu S +8 more
europepmc +1 more source
Will Memantine Exacerbate Seizures in People With Epilepsy? A Prospective Cohort Study
ABSTRACT Objective To evaluate whether add‐on memantine would exacerbate seizures in people with epilepsy. Methods This was a prospective cohort study. People with epilepsy diagnosed with cognitive impairment were consecutively invited. Those who agreed were followed up for at least 24 weeks.
Peiyu Wang +7 more
wiley +1 more source

