Results 211 to 220 of about 2,143,328 (347)

Regional and Global Changes in Brain Structure 1‐Year Post Pediatric “Mild” Traumatic Brain Injury

open access: yesAnnals of Neurology, EarlyView.
Objective Despite the high prevalence of pediatric “mild” traumatic brain injury (pmTBI), very little is known about the long‐term effects of injury on brain structure and how injuries manifest in the context of dynamic and regionally specific neurodevelopmental changes. Methods Prospective study design characterizing long‐term effects of pmTBI on both
Upasana Nathaniel   +15 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

open access: yesAnnals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel   +10 more
wiley   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

open access: yesAnnals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker   +79 more
wiley   +1 more source

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