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
Dynamic linkages between chicken meat production, consumption, income and trade: Evidence from Wavelet coherence and Granger causality in Asia. [PDF]
Silva Y +5 more
europepmc +1 more source
Collective bargaining and workplace performance: an investigation using the workplace employee relations survey 1998 [PDF]
Bryson, Alex, Wilkinson, David
core
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
The organisation and provision of youth work services targeted at young people with long-term physical or mental health conditions in the United Kingdom: a service mapping study. [PDF]
Kirk S +9 more
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
From observation to action: a qualitative interview study of factors that influence the reporting of observations of unprofessional conduct in healthcare settings. [PDF]
Webb LE +5 more
europepmc +1 more source
Views from Inside a Non-Profit Organisation
Patrick Kaars, Bureline Kaars
openaire +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
Getting unstuck: reframing health systems strengthening and resilience in fragile and conflict-affected settings. [PDF]
Truppa C +6 more
europepmc +1 more source

