Results 131 to 140 of about 132,934 (259)

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

Editorial: Role of complement activation in kidney diseases

open access: yesFrontiers in Medicine, 2023
Takashi Oda, Toshihiro Sawai
doaj   +1 more source

The role of the complement system in gastrointestinal-related diseases. [PDF]

open access: yesFront Immunol
Yong B   +5 more
europepmc   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

open access: yesAnnals 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

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma   +16 more
wiley   +1 more source

Integrating Time‐Adjusted Imaging Instability Into Functional Outcome Prediction After Intracerebral Hemorrhage: Development and Validation of the HAGIV Score

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early risk stratification may support clinical decision‐making in spontaneous intracerebral hemorrhage (ICH). We aimed to develop and internally validate HAGIV, a score integrating frequency of imaging markers (FIM), a time‐adjusted non‐contrast computed tomography (CT) metric of hematoma expansion, with established predictors for 90‐
Lei Song   +10 more
wiley   +1 more source

Intracerebral Hemorrhage Induces Monocyte TNF Signaling in Patients That Is Suppressed by BAF312

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intracerebral hemorrhage (ICH) causes high morbidity and mortality, with neurotoxic inflammation driven by infiltrating monocytes. This study is an in‐depth longitudinal examination of the immune response during the first week of ICH in the presence and absence of the immunomodulatory drug BAF312 (Siponimod).
Jonathan Howard DeLong   +10 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

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