Results 191 to 200 of about 355,853 (371)

A companion to the preclinical common data elements for phenotyping seizures and epilepsy in rodent models. A report of the TASK3‐WG1C: Phenotyping working group of the ILAE/AES joint translational task force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract Epilepsy is a heterogeneous disorder characterized by spontaneous seizures and behavioral comorbidities. The underlying mechanisms of seizures and epilepsy across various syndromes lead to diverse clinical presentation and features. Similarly, animal models of epilepsy arise from numerous dissimilar inciting events.
Melissa Barker‐Haliski   +3 more
wiley   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain   +11 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel   +2 more
wiley   +1 more source

New Transferrin Receptor‐Targeting Conjugate Effectively Delivers DNA to Mouse Brain

open access: yesAngewandte Chemie, EarlyView.
We present a novel RNA aptamer targeting the transferrin receptor (TfR), conjugated with DSPE lipid, which achieves remarkably efficient brain uptake, reaching brain‐to‐serum ratios as high as 6.5. Through fluorescence imaging and polymerase‐chain reaction analyses, we verify that this new conjugate successfully delivers a substantial amount of DNA ...
Min‐sun Song   +8 more
wiley   +2 more sources

RoboOS: A Hierarchical Embodied Framework for Cross-Embodiment and Multi-Agent Collaboration [PDF]

open access: yesarXiv
The dawn of embodied intelligence has ushered in an unprecedented imperative for resilient, cognition-enabled multi-agent collaboration across next-generation ecosystems, revolutionizing paradigms in autonomous manufacturing, adaptive service robotics, and cyber-physical production architectures.
arxiv  

Premenopausal bilateral oophorectomy and Alzheimer's disease imaging biomarkers later in life

open access: yesAlzheimer's &Dementia, EarlyView.
Abstract INTRODUCTION Premenopausal bilateral oophorectomy (PBO) before the age of 46 years is associated with an increased risk of dementia. We investigated the long‐term effects of PBO performed before age 50 years on amyloid beta (Aβ), tau, and neurodegeneration imaging biomarkers of Alzheimer's disease (AD).
Kejal Kantarci   +13 more
wiley   +1 more source

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