Results 241 to 250 of about 301,813 (312)

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

Action Collaborative on Traumatic Brain Injury Care: Adapted Clinical Practice Guideline. [PDF]

open access: yesAnn Fam Med
Silverberg ND   +18 more
europepmc   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yesClin Rheumatol
Mo Y   +5 more
europepmc   +1 more source

Clinical Practice Guideline Recommendations for Post-Acute Sequelae of COVID-19. [PDF]

open access: yesInfect Chemother
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]

open access: yesJ Immunother Cancer
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]

open access: yesESMO Open
Pentheroudakis G   +5 more
europepmc   +1 more source

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