Results 181 to 190 of about 166,491,988 (249)

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers   +19 more
wiley   +1 more source

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

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato   +7 more
wiley   +1 more source

Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl   +6 more
wiley   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu   +10 more
wiley   +1 more source

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