Results 41 to 50 of about 5,810,038 (316)
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
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Inaugural Editorial: Experimentation in Innovation Studies
The purpose of the new on-line journal, CERN IdeaSquare Journal of Experimental Innovation, is to provide an open platform and a data depository for the socio-economic innovation research.
S.J. Mäkinen +4 more
doaj +1 more source
Sex Hormones Associate With Amyotrophic Lateral Sclerosis Risk and Survival
ABSTRACT Amyotrophic lateral sclerosis (ALS) risk differs by sex and age, implicating sex hormones as potential modifiers. This study examined plasma levels of biologically active sex hormones and their association with ALS odds and survival in cases (females n = 131, males n = 189) and controls (females n = 138, males n = 150) from the University of ...
Stephen A. Goutman +5 more
wiley +1 more source
Objective The aim of this systematic review was to synthesize the economic impact of rheumatoid arthritis (RA) on households, health systems, and society in low‐ and middle‐income countries (LMICs). Methods Electronic databases such as PubMed, Web of Science, and CINAHL were searched using keywords related to RA and cost of illness.
Tadesse Gebrye +6 more
wiley +1 more source
Objectives There is growing interest in evaluating new strategies to delay or prevent post‐traumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury.
Kevin Kennedy +9 more
wiley +1 more source
Objective This systematic review aimed to assess the diagnostic accuracy of algorithms used to identify rheumatoid arthritis and juvenile idiopathic arthritis in electronic health records. Methods We searched Medline, Embase, and Cochrane Central Register for Controlled Trials databases and included studies that validated case definitions against a ...
Constanza Saka‐Herrán +10 more
wiley +1 more source
Objective Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.
Sophie Hu +109 more
wiley +1 more source
Masthead, Volume 2, Number 2, 2004 [PDF]
Masthead for Volume Two, Issue Number ...
Editorial Board
core +1 more source

