Results 41 to 50 of about 33,179 (287)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

Language and communication development in preschool children with visual impairment: A systematic review

open access: yesSouth African Journal of Communication Disorders, 2015
Background: Language and communication difficulties of young children with visual impairment (VI) are ascribed to intellectual disability, multiple disabilities and autism spectrum disorder (ASD) rather than their sensory impairment.
Renata Mosca   +2 more
doaj   +1 more source

PENGARUH DAILY BEHAVIOUR REPORT CARD TERHADAP PENURUNAN PERILAKU MALADAPTIF PESERTA DIDIK MULTIPLE DISABILITIES WITH VISUAL IMPAIRMENT [PDF]

open access: yes, 2018
Pesertadidikmultiple disabilities with visual impairmentpadaanakdenganhambatanlow visiondisertaiattention deficit hiperaktivedisorder padaumumnyamemilikiperilakumaladaptifsalahsatunyayaituperilakuhiperaktivitas.
Rizqi Wahyuni SW, -
core  

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Visual impairment in persons with intellectual disability [PDF]

open access: yesSpecijalna Edukacija i Rehabilitacija, 2018
Vision is one of the most important sensory modalities for receiving information about the world and has an important role in child development. Visual impairment is a significant obstacle for optimal everyday functioning of a person and for achieving a ...
Stanimirov Ksenija   +3 more
doaj  

A Dog Is a Doctor’s Best Friend: The Use of a Service Dog as a Perioperative Assistant

open access: yesCase Reports in Pediatrics, 2016
Service dogs are beneficial in providing assistance to people with multiple types of disabilities and medical disorders including visual impairment, physical disabilities, seizure disorders, diabetes, and mental illness.
Shannon Tew, Brad M. Taicher
doaj   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright   +10 more
wiley   +1 more source

Clinical and Modifiable Factors Associated With Disability and Relapse in MOGAD: A Multicentre Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang   +23 more
wiley   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera   +20 more
wiley   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab   +19 more
wiley   +1 more source

Home - About - Disclaimer - Privacy