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
Improving Methodological Quality in Meta-Analyses of Athlete Pain Interventions: An Overview of Systematic Reviews. [PDF]
Pineda-Escobar S +3 more
europepmc +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Endometrial microbiota-targeted therapies for chronic endometritis-associated recurrent implantation failure and their impact on IVF outcomes: A systematic review and methodological quality assessment. [PDF]
Doroftei B +6 more
europepmc +1 more source
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
The Sport Publication Observational Research Tool (SPORT): An Objective Tool to Score the Methodological Quality of Observational Clinical Sports Medicine Research. [PDF]
Kuhn AW +55 more
europepmc +1 more source
Clinical practice guidelines for acute kidney injury: a systematic review of the methodological quality. [PDF]
Li R +6 more
europepmc +1 more source
Top 50 Most-Cited Articles on Tension Band Wiring for Patellar Fractures: A Bibliometric Analysis and Methodological Quality Assessment. [PDF]
Zainy A, Lee CH, Sadik H, Qiao G.
europepmc +1 more source
Exploring the methodological quality and risk of bias in 200 systematic reviews: A comparative study of ROBIS and AMSTAR-2 tools. [PDF]
Lunny C +40 more
europepmc +1 more source

