Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Region-specific LOI-TOC conversion models for marine sediment blue carbon assessment in the Western Irish Sea. [PDF]
Environ Monit AssessGrey A +6 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Environmental Transformations of Metals in a Hypersaline Mediterranean Agricultural Wetland (Laguna Honda, South Spain). [PDF]
ToxicsMedina-Ruiz A +3 more
europepmc +1 more source
T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions
Annals 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
Depositional Environment and Diagenetic History of Gas Hydrate-Bearing Sediments of the Alaska North Slope (HYDRATE 02 Geo Data Well). [PDF]
Energy FuelsPhillips SC +9 more
europepmc +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
Heavy Metal Pollution in River Sediments: Risk Assessment, Source Apportionment, and Remediation-A Review Focusing on Chinese River Basins. [PDF]
ToxicsTan Y +7 more
europepmc +1 more source