A5018882255- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Glaucoma and retinal disorders
- Growth Hormone and Insulin-like Growth Factors
- Corneal surgery and disorders
- Genetics and Neurodevelopmental Disorders
- Ocular Surface and Contact Lens
- Childhood Cancer Survivors' Quality of Life
- Language Development and Disorders
- Sleep and related disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Sleep and Wakefulness Research
- Congenital heart defects research
- Cancer-related molecular mechanisms research
- Corneal Surgery and Treatments
- Intraocular Surgery and Lenses
- Neurogenetic and Muscular Disorders Research
- Mesenchymal stem cell research
- Neuroendocrine regulation and behavior
- Restless Legs Syndrome Research
- Neurological Disease Mechanisms and Treatments
- Diet and metabolism studies
Tris Pharma (United States)
2023
Mallinckrodt (United States)
2021
University of South Florida
2014-2020
Ovid Therapeutics (United States)
2016-2018
USF Health Byrd Alzheimer's Institute
2015-2016
Angelman syndrome (AS) is a rare genetic and neurological disorder presenting with seizures, developmental delay, ataxia, lack of speech. Previous studies have indicated that oxidative stress-dependent metabolic dysfunction may underlie the phenotypic deficits reported in AS mouse model. While ketogenic diet (KD) has been used to protect against stress successfully treated refractory epilepsy case studies, issues arise due its strict adherence requirements, addition selective eating habits...
Minocycline, a member of the tetracycline family, has low risk adverse effects and an ability to improve behavioral performance in humans with cognitive disruption. We performed single-arm open-label trial which 25 children diagnosed Angelman syndrome (AS) were administered minocycline assess safety tolerability this patient population determine drug's effect on manifestations disorder. Participants, age 4-12 years old, randomly selected from pool previously screened for participation study....
Abstract The Reelin signaling pathway is implicated in processes controlling synaptic plasticity and hippocampus‐dependent learning memory. A single direct vivo application of enhances long‐term potentiation, increases dendritic spine density improves associative spatial Angelman syndrome ( AS ) a neurological disorder that presents with an overall defect function, including decreased reduced density, deficits memory, making it attractive model which to examine the ability recover function...
The objectives of this study are to evaluate the prevalence and incidence Narcolepsy type 1 2 determine narcolepsy diagnosis criteria in US general population.This longitudinal was conducted adult population two occasions. initial interviews included 15 states (Arizona, California, Colorado, Florida, Idaho, Missouri, New York, North Carolina, Dakota, Oregon, Pennsylvania, South Texas, Washington, Wyoming). follow-up interviews, done three years later eight these states. Of 19,136 contacted...
Angelman syndrome is a rare disorder in which most individuals do not develop speech. Testing of communication ability using traditional neuropsychological measures reveals performance level at or near the floor instrument resulting an inability to detect change when experimental therapeutics are applied.Nine individuals, with molecularly confirmed AS, ranging age from 34 126 months, and single healthy control child (age 16 months) were audio video-recorded while interacting licensed...
Angelman syndrome (AS) leads to clinical manifestations that include intellectual impairments, developmental delay and poor motor function. Initiatives develop therapeutics implie an urgent need identify methods accurately measure the abilities.Six children with AS (6 9 years old) walked on instrumented walkway get spatiotemporal parameters (STPs) center of pressure (CoP). These outcomes were compared typically developing (TD): 44 TD 6 old 20 4 5 old.Analysis revealed differences in all STPs...
Angelman syndrome (AS) is a rare, neurological genetic disorder for which no clinical outcomes assessments (COAs) or conceptual models (CM) have been developed.
The goal of these studies was to use quantitative (q)EEG techniques on data from children with Angelman syndrome (AS) using spectral power analysis, and evaluate this as a potential biomarker method therapeutics. Although characteristic patterns are evident in visual inspection, qEEG has the provide evidence treatment efficacy. We first assessed baseline EEG recordings collected AS compared age-matched neurotypical controls, which corroborated previously reported finding increased total...
Noninfectious keratitis is a painful corneal inflammation treated with topical cyclosporine and other immunosuppressants. Additional treatment options are needed for that does not improve standard therapies. Repository corticotropin injection (RCI; Acthar® Gel) approved to treat severe acute chronic allergic inflammatory processes involving the eye its adnexa, including keratitis. This phase 4, multicenter, open-label study assessed efficacy safety of RCI refractory noninfectious...
April 24, 2018April 10, 2018Free AccessSTARS: A Phase 2 Adult Angelman Syndrome Clinical Trial: Randomized, Double-blind, Safety and Efficacy Study of Gaboxadol (P3.302)Cesar Ochoa-Lubinoff, Logan Wink, Joseph Grieco, Jeannie Visootsak, Rebecca Burdine, Alexander Kolevzon, Ronald Thibert, Lynne BirdAuthors Info & AffiliationsApril 2018 issue90 (15_supplement) Letters to the Editor