Results 241 to 250 of about 17,219 (295)

Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague   +8 more
wiley   +1 more source

Computational analysis of a mathematical model of hookworm infection. [PDF]

open access: yesSci Rep
Shafique U   +6 more
europepmc   +1 more source

Long COVID in People With Multiple Sclerosis and Related Disorders: A Multicenter Cross‐Sectional Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Managing long COVID in people with multiple sclerosis and related disorders (pwMSRD) is complex due to overlapping symptoms. To address evidence gaps, we evaluated long COVID susceptibility in pwMSRD versus controls and its associations with multi‐domain function and disability.
Chen Hu   +15 more
wiley   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin   +12 more
wiley   +1 more source

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