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
Implementation of a comprehensive template to support personalised care for people with multiple long-term conditions: a mixed-methods evaluation in primary care. [PDF]
Johnson R +15 more
europepmc +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
Curriculum Implementation for the Medical Laboratory Technology Programme at an Allied Health School: A Case of Uganda Institute of Allied Health and Management Sciences. [PDF]
Ndhego R +4 more
europepmc +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Correction: Firm, yet flexible: a fidelity debate paper with two case examples
Bianca Albers +6 more
doaj +1 more source
Securing structured transitional care for adolescents with type 1 diabetes: a qualitative study of implementation barriers and facilitators prior to implementation- the STEPSTONES-Implement project. [PDF]
Brorsson AL +2 more
europepmc +1 more source

