Results 71 to 80 of about 310,806 (291)

Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis [PDF]

open access: yes, 2018
Osteoporosis is associated with chronic iron overload secondary to hereditary hemochromatosis (HH), but the causative mechanisms are incompletely understood.
Camacho, António   +7 more
core   +4 more sources

Network Localization of Fatigue in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo   +12 more
wiley   +1 more source

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature

open access: yesJournal of Medical Case Reports, 2023
Background Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases.
Hengguang Wei   +3 more
doaj   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]

open access: yes, 2016
In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy   +3 more
core   +1 more source

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements. [PDF]

open access: yes, 2015
PurposeTo investigate the thickness of the retinal layers and to assess the prevalence of macular microcysts (MM) in the inner nuclear layer (INL) of patients with mitochondrial optic neuropathies (MON).MethodsAll patients with molecularly confirmed MON,
Bandello, Francesco   +13 more
core   +3 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz   +3 more
wiley   +1 more source

Review: Dystroglycan in the Nervous System [PDF]

open access: yes, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri   +7 more
wiley   +1 more source

Glaucoma and cigarette smoking: a review of narrative reviews [PDF]

open access: yes, 2016
Background: Glaucoma is an optic neuropathy associated with visual field changes for which high intra-ocular pressure is a major risk factor. Emerging research indicates that modifiable factors, among which the cigarette smoke, besides IOP may be ...
DI MURRO, FRANCESCA   +3 more
core   +2 more sources

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

open access: yesScience Translational Medicine, 2020
At 96 weeks after unilateral intravitreal injection of rAAV2/2-ND4, vision improved in both eyes in 78% of subjects affected with LHON. Unexpected transfer Gene therapy using adeno-associated viral (AAV) vectors is a promising strategy for monogenic ...
P. Yu‐Wai‐Man   +22 more
semanticscholar   +1 more source

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