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
Beyond Training Stability: The Need for Clinical Generalizability and Explainability in Self-Supervised ECG Models. [PDF]
Ann Noninvasive ElectrocardiolKorucu C, Görenek B.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
Author Correction: Kriging-based surrogate data-enriching artificial neural network prediction of strength and permeability of permeable cement-stabilized base. [PDF]
Nat CommunWang X +6 more
europepmc +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
A practical workflow for applying validation strategies in tree height-diameter modelling. [PDF]
MethodsXAyer S, Bhatta KP.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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
Correction: Complete Blood Count-Derived Inflammation Indices to Predict 3-Year All-Cause Mortality in Patients With Diabetes and Acute Myocardial Infarction in Critical Care: Retrospective Cohort Study With Single-Center External Validation. [PDF]
JMIR Med InformZhou T, Yang K, Yang Y, Liu SM.
europepmc +1 more source
Annals 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
Case report of combined application of three sphincter-preserving approaches in complex perianal fistula. [PDF]
J Surg Case RepSokolov MB, Arabadzhiev AN.
europepmc +1 more source