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
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
Dual Sensory Impairment as a Predictor of Loneliness and Isolation in Older Adults: National Cohort Study. [PDF]
Wang Q, Zhang S, Wang Y, Zhao D, Zhou C.
europepmc +1 more source
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
Dual Sensory Impairment and Depressive Symptoms: Association and Pathways in Three Cohorts and a Meta-Analysis. [PDF]
Ni P, Liu L, Zeng L, Ge M, Wang F, Hu X.
europepmc +1 more source
Associations of dual sensory impairment with long-term depressive and anxiety symptoms in the United States. [PDF]
Armstrong NM +9 more
europepmc +1 more source
T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions
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
Association Between Dual Sensory Impairment, Hospitalization, and Burden of Disease [PDF]
Matthew G. Huddle +4 more
openaire +2 more sources
Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane +10 more
wiley +1 more source
Dual sensory impairment and health equity: evidence and gaps from the Australian Eye and Ear Health Survey. [PDF]
Jiang F, Xu L, Chen S.
europepmc +1 more source

