Results 151 to 160 of about 218,478 (251)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 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

Thermodynamic instability of viral proteins is a pathogen-associated molecular pattern targeted by human defensins. [PDF]

open access: yesSci Rep, 2016
Kudryashova E   +5 more
europepmc   +1 more source

Comparative Analysis of Choroid Plexus Volume Between MOG Antibody Associated Disease and Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Choroid plexus volume (CPV) has been proposed as a neuro‐immunological marker of multiple sclerosis (MS), but its relevance in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD) remains uncertain. We analyzed CPV in 43 individuals with MOGAD, 48 with MS, and 44 healthy controls using a Bayesian Gaussian mixture modeling ...
Jae‐Won Hyun   +4 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

open access: yesArthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos   +2 more
wiley   +1 more source

Home - About - Disclaimer - Privacy