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
The association of global and prime diet quality scores with sperm quality parameters: a cross-sectional study. [PDF]
Hadi Sichani P +7 more
europepmc +1 more source
The influence of tribological characteristics of coated tools on the cutting process and the quality parameters of the parts’ surface layer [PDF]
V. F. Bezjazychnyj, R. N. Fomenko
openalex
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
Chronic heat stress compromises egg production and quality parameters through changes in blood biochemistry and uterine gene expression in laying hens raised under cage-free environment. [PDF]
Aryal B +7 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
Integrated Characterization of <i>Phoenix dactylifera</i> L. Fruits and Their Fermented Products: Volatilome Evolution and Quality Parameters. [PDF]
Bagnulo E +7 more
europepmc +1 more source
Assessment of genetic variability parameters for yield and quality traits in aromatic rice (Oryza sativa L.) [PDF]
Himanshu Chaudhary +3 more
openalex
Post‐COVID Fatigue Is Associated With Reduced Cortical Thickness After Hospitalization
ABSTRACT Objective Neuropsychiatric symptoms are among the most prevalent sequelae of COVID‐19, particularly among hospitalized patients. Recent research has identified volumetric brain changes associated with COVID‐19. However, it currently remains poorly understood how brain changes relate to post‐COVID fatigue and cognitive deficits.
Tim J. Hartung +190 more
wiley +1 more source

