Results 251 to 260 of about 418,262 (313)

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

Prediction and Prevention of Pandemics via Graphical Model Inference and ConvexProgramming

open access: yes, 2021
Krechetov M   +4 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit   +11 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro   +14 more
wiley   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau   +11 more
wiley   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

open access: yesAnnals 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

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian   +6 more
wiley   +1 more source

Evaluation of a Novel Electric Health Record Sidecar Application to Display Rheumatoid Arthritis Clinical Outcomes During Clinic Visits: Results of a Stepped‐Wedge Cluster Randomized Pragmatic Trial

open access: yesArthritis Care &Research, EarlyView.
Objective We developed a novel electronic health record sidecar application to visualize key rheumatoid arthritis (RA) outcomes, including disease activity, physical function, and pain, via a patient‐facing graphical interface designed for use during outpatient visits (“RA PRO dashboard”).
Gabriela Schmajuk   +16 more
wiley   +1 more source

Association Between Symptomatic Knee Osteoarthritis and Target Glycemic Control in Individuals With Type 2 Diabetes

open access: yesArthritis Care &Research, EarlyView.
Objective Knee osteoarthritis (OA) commonly affects individuals with type 2 diabetes (T2DM) and is associated with increased risk of diabetes‐related complications. To better understand potential mechanisms, we examined the association between symptomatic knee OA and glycemic control in individuals with T2DM.
Lauren K. King   +10 more
wiley   +1 more source

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