Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
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
Action Collaborative on Traumatic Brain Injury Care: Adapted Clinical Practice Guideline. [PDF]
Silverberg ND +18 more
europepmc +1 more source
T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ±
Sarah J. Wright +10 more
wiley +1 more source
Clinical practice guideline for pediatric scar prevention and treatment (2025 edition). [PDF]
Chinese Burn Association.
europepmc +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Correction: Clinical practice guideline for the treatment of Sjögren's disease through off-label drug use in China (English edition). [PDF]
Mo Y +5 more
europepmc +1 more source
Clinical Practice Guideline Recommendations for Post-Acute Sequelae of COVID-19. [PDF]
Seo JW +13 more
europepmc +1 more source
Society for Immunotherapy of Cancer (SITC) clinical practice guideline on immunotherapy for the treatment of renal cell carcinoma, version 3.0. [PDF]
McKay RR +18 more
europepmc +1 more source
ESMO Clinical Practice Guideline Express Update on the adoption of physical exercise in patients with localised colon cancer. [PDF]
Pentheroudakis G +5 more
europepmc +1 more source

