Results 111 to 120 of about 18,042 (296)
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Public spending and Scottish devolution : crowding out, or crowding in?
There has been a developing debate about the performance of the Scottish economy under devolution and the effect of the expansion of the public sector on Scottish growth.
Allan, G. +5 more
core
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay +13 more
wiley +1 more source
Tra federalismo e devolution. Spunti dagli Stati Uniti
Il processo di devolution nel Regno Unito emerge come motore di una profonda ristrutturazione dello Stato contemporaneo e, di conseguenza, del potere pubblico.
Bruno, Anna
core
Territorial policy communities and devolution in the UK
Devolution in the UK forms part of a wider process of spatial rescaling across Europe. Little work has been done on its effect on interest articulation. The literature on policy communities treats them as sectoral in scope.
Eve Hepburn +5 more
core +1 more source
Abortion in Northern Ireland: From Limbo to Law
If abortion is now (2024) decriminalized North and South of the Irish border, a certain number of legal and non‑legal obstacles prevent Irish women from accessing services of a free, safe and legal termination of pregnancy.
Nathalie Sebbane
doaj +1 more source
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma +16 more
wiley +1 more source
The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti +5 more
wiley +1 more source

