Results 221 to 230 of about 743,434 (310)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen   +11 more
wiley   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang   +8 more
wiley   +1 more source

Reperfusion‐Dependent Outcomes After Endovascular Thrombectomy Stratified by NIHSS‐ASPECTS Clinical‐Core Mismatch

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This analysis evaluates the effect of successful reperfusion on functional outcomes after MT, stratified by admission National Institutes of Health Stroke Scale (NIHSS) and Alberta Stroke Program Early CT Score (ASPECTS) as surrogates for clinical‐core mismatch, using multicenter registry data.
Felix Schlicht   +53 more
wiley   +1 more source

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