Results 181 to 190 of about 25,444,937 (291)
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
Enhanced RNA-Seq Expression Profiling and Functional Enrichment in Non-model Organisms Using Custom Annotations. [PDF]
Eden M IST, Vetrivel U.
europepmc +1 more source
White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram +3 more
wiley +1 more source
microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan +4 more
wiley +1 more source
Practical Guidance on Fisher's z Transformation for Meta-Analysis of Pearson's Correlation Coefficients. [PDF]
Chen J, Wang Y, Lin L.
europepmc +1 more source
Predicting extreme defects in additive manufacturing remains a key challenge limiting its structural reliability. This study proposes a statistical framework that integrates Extreme Value Theory with advanced process indicators to explore defect–process relationships and improve the estimation of critical defect sizes. The approach provides a basis for
Muhammad Muteeb Butt +8 more
wiley +1 more source
Copyright and the Users of Libraries [PDF]
openaire +1 more source
Access to Essential Services: A Critical Factor for Predicting Recovery and Quantifying Resilience. [PDF]
Swanson T +3 more
europepmc +1 more source
This article presents the NFDI‐MatWerk Ontology (MWO), a Basic Formal Ontology‐based framework for interoperable research data management in materials science and engineering (MSE). Covering consortium structures, research data management resources, services, and instruments, MWO enables semantic integration, Findable, Accessible, Interoperable, and ...
Hossein Beygi Nasrabadi +4 more
wiley +1 more source
cpm: A python library for theory-driven modelling in computational psychiatry. [PDF]
Dome L +5 more
europepmc +1 more source

