Results 161 to 170 of about 79,392 (261)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram   +3 more
wiley   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin   +11 more
wiley   +1 more source

Numerical Investigation of a Mitochondria-Inspired Micromixer for Enhanced Mixing. [PDF]

open access: yesMicromachines (Basel)
Hashmi MA   +4 more
europepmc   +1 more source

Marked Long‐Term Improvement in Lung Function in Melanoma Differentiation–Associated Protein 5 Antibody–Positive Dermatomyositis Patients: Experience of a Single‐Center Longitudinal Cohort in North America

open access: yesArthritis Care &Research, EarlyView.
Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah   +8 more
wiley   +1 more source

Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome

open access: yesArthritis Care &Research, EarlyView.
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino   +9 more
wiley   +1 more source

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