Results 91 to 100 of about 738,883 (337)
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen +47 more
wiley +1 more source
FAM222A encodes a protein which accumulates in plaques in Alzheimer's disease. [PDF]
, 2020 Alzheimer's disease (AD) is characterized by amyloid plaques and progressive cerebral atrophy. Here, we report FAM222A as a putative brain atrophy susceptibility gene.
Alzheimer Disease Neuroimaging Initiative +7 more
core
Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing +4 more
wiley +1 more source
Combination of gastric atrophy, reflux symptoms and histological subtype indicates two distinct aetiologies of gatric cardia cancer. [PDF]
, 2008 <b>INTRODUCTION</b> Atrophic gastritis is a risk factor for non-cardia gastric cancer, and gastro-oesophageal reflux disease (GORD) for oesophageal adenocarcinoma.
Derakhshan, M.H. +10 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo +11 more
wiley +1 more source
Morphological peculiarates of gastritis in patients with chronic gastric erosions and bi-liary tract disease [PDF]
Морфологія, 2012 Article presents the morphological peculiarates of gastritis in patients with erosions with biliary tract disease in comparison with patients with gastric erosions and duodenal ulcer disease and chronic gastritis.
Solovyova G.A., Kurik O.G.
doaj
Molecules, 2020 Arsenic is a toxic metalloid. Infants with a low birth-weight have been observed in areas with high-level arsenic in drinking water ranging from 463 to 1025 μg/L.
Chang-Mu Chen +4 more
doaj +1 more source
Oxidative stress and muscle homeostasis [PDF]
, 2010 Purpose of review The term oxidative stress is often used to indicate a condition in which the accumulation of reactive oxygen species is considered just damaging.
Fanò, Giorgio +2 more
core +1 more source
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee +26 more
wiley +1 more source