Results 61 to 70 of about 1,057,814 (256)

Closing the Empirical Loop: Autonomous AI Agents Conduct End‐to‐end Research With Human Participants

open access: yesAdvanced Science, EarlyView.
A multi‐agent AI system autonomously executes the complete scientific workflow, from hypothesis to manuscript, across three psychological studies involving 288 participants. The system designs experiments, collects real world data, develops analysis pipelines, and writes manuscripts with theoretical rigor comparable to experienced researchers.
Gabrielle Wehr   +6 more
wiley   +1 more source

Super‐Multiplexed Label‐Free Raman Imaging Uncovers Novel Testicular Metabolic Couplings for Residual Body and Spermatogonial Differentiation

open access: yesAdvanced Science, EarlyView.
Super‐multiplexed Label‐free Raman Imaging (SLRI) enables 2D/3D metabolic mapping of intact Drosophila testes. Moving beyond descriptive morphology, it establishes a multidimensional tool for tissue metabolic remodeling, and offers a generalizable platform for complex tissue analysis, with implications extending to development and disease. ABSTRACT The
Jiaxin Li   +23 more
wiley   +1 more source

A Blood‐Derived Factor Rescues ALS: Platelet Factor 4 Activates OPTN‐Dependent Autophagy to Clear SOD1 Aggregates Independently of PINK1

open access: yesAdvanced Science, EarlyView.
Systemic platelet factor 4 (PF4) is significantly depleted in amyotrophic lateral sclerosis (ALS). Peripheral PF4 replenishment restores central proteostasis by driving OPTN‐dependent, PINK1‐independent selective autophagy in motor neurons. This intervention effectively clears toxic SOD1 aggregates, blunts glial activation, and preserves neuromuscular ...
Qingjian Xie   +12 more
wiley   +1 more source

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

open access: yesTremor and Other Hyperkinetic Movements, 2015
Background: ATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss ...
Pichet Termsarasab   +2 more
doaj   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

open access: yesAdvanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee   +11 more
wiley   +1 more source

Assessment and optimisation of MRI measures of atrophy as potential markers of disease progression in multiple sclerosis [PDF]

open access: yes, 2008
There is a need for sensitive measures of disease progression in multiple sclerosis (MS) to monitor treatment effects and understand disease evolution. MRI measures of brain atrophy have been proposed for this purpose. This thesis investigates a number
Anderson, V.
core  

Peripheral neuropathies of childhood [PDF]

open access: yes, 2009
Includes synopsis.Incldues bibliographical references (p. 195-220).Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De ...
Wilmshurst, Jo
core   +1 more source

Cross‐Sectoral AI Integration Is Essential to Tackling Food Waste and Food Insecurity: A Roadmap for Developing Resilient Food Systems

open access: yesAdvanced Intelligent Systems, EarlyView.
As food insecurity and global food demands surge, artificial intelligence (AI)‐based technologies offer promising opportunities to reduce food loss and waste. In this perspective, current AI adoption across the food supply chain is assessed using various academic, industry, and policy sources.
Akansha Prasad   +5 more
wiley   +1 more source

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

open access: yesOrphanet Journal of Rare Diseases
Objective Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss,
Jessica P. Roberts   +8 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

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