Results 151 to 160 of about 260,143 (289)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling   +16 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao   +7 more
wiley   +1 more source

Preferences for post‐traumatic osteoarthritis prevention strategies in individuals with anterior cruciate ligament injury

open access: yesArthritis Care &Research, Accepted Article.
Objectives There is growing interest in evaluating new strategies to delay or prevent post‐traumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury.
Kevin Kennedy   +9 more
wiley   +1 more source

Effectiveness and Safety of Baricitinib for Juvenile Idiopathic Arthritis–Associated Uveitis or Chronic Anterior Antinuclear Antibody–Positive Uveitis

open access: yesArthritis Care &Research, EarlyView.
Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan   +7 more
wiley   +1 more source

Testing a Personalized Approach to Chronic Low Back Pain: A Randomized Controlled Trial in Older Veterans

open access: yesArthritis Care &Research, EarlyView.
Objective We aimed to test the efficacy of personalized treatment of older veterans with chronic low back pain (CLBP) delivered by Aging Back Clinics (ABCs) as compared with usual care (UC). Methods Two hundred ninety‐nine veterans aged 65 to 89 with CLBP from three Veterans Affairs (VA) medical centers underwent baseline testing, randomization to ABC ...
Debra K. Weiner   +9 more
wiley   +1 more source

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