Results 151 to 160 of about 3,621,615 (290)
Annals 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
Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park +5 more
wiley +1 more source
Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse +13 more
wiley +1 more source
Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella +5 more
wiley +1 more source
Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey
Arthritis Care &Research, EarlyView.Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa +3 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato +27 more
wiley +1 more source
Examining Demographic Variables Associated with Fruit and Vegetable Intake and Skin Yellowness. [PDF]
NutrientsJansson AK +4 more
europepmc +1 more source
Automated Hand Flexor Tendon–Thickness Measurement in Systemic Sclerosis
Arthritis Care &Research, EarlyView.Objective Systemic sclerosis (SSc) can affect flexor tendons, contributing to hand function problems and reduced quality of life. Tendon changes are currently assessed with ultrasonography and measured manually, a time‐consuming process prone to interobserver variability.
Mark Greveling +4 more
wiley +1 more source