Results 171 to 180 of about 1,948,220 (393)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

Hydrobiological and Geochemical Responses to Trout Cage Aquaculture in Lake Ecosystem

open access: yesLimnological Review
This study investigates the seasonal dynamics and interrelationships between geochemical and hydrobiological parameters in lake ecosystems impacted by fish cage farming in Lake Ladoga, Russia.
Artem Lapenkov   +4 more
doaj   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun   +95 more
wiley   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin   +6 more
wiley   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu   +9 more
wiley   +1 more source

GeoTechnical Investigations for the Dalton Highway Innovation Project As A Case Study of the Ice-Rich Syngenetic Permafrost [PDF]

open access: yes, 2010
INE/AUTC 11 ...
Dillon, Matthew   +4 more
core  

Higher Amyloid and Tau Burden Is Associated With Faster Decline on a Digital Cognitive Test

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A 2‐min digital clock‐drawing test (DCTclock) captures more granular features of the clock‐drawing process than the pencil‐and‐paper clock‐drawing test, revealing more subtle deficits at the preclinical stage of Alzheimer's disease (AD). A previous cross‐sectional study demonstrated that worse DCTclock performance was associated with
Jessie Fanglu Fu   +16 more
wiley   +1 more source

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