193 papers
This study suggests that HIV and antiretroviral exposure may cause subtle, uncorrected delays in auditory white matter tract maturation in infants, particularly affecting those exposed post-conception and potentially impacting language processing, although these findings did not reach statistical significance after multiple comparison correction.
This study demonstrates that clinically silent MRI lesions in relapsing-remitting multiple sclerosis predict higher risks of relapse and disability worsening, and that escalating disease-modifying therapy after even a single silent lesion significantly reduces relapse risk, suggesting current guidelines may be too conservative.
By integrating genome-wide association study data with brain transcriptomics and drug perturbation signatures, this study identifies robust transcriptional signatures associated with long-term ischemic stroke outcomes and prioritizes candidate compounds, including anandamide, progesterone, and Z-guggulsterone, for drug repurposing to improve functional recovery.
The Sleep Apnoea and Memory (SAM) study is a prospective multi-site observational trial designed to determine the prevalence of sleep apnoea in NHS memory clinic patients, evaluate optimal screening methods, and inform future interventional trials aimed at improving cognitive outcomes through sleep apnoea treatment.
This study of nearly 10,000 US adults aged 50 and older reveals that the triglyceride-glucose-frailty index (TYGFI) is robustly and non-linearly associated with increased stroke risk, with body mass index acting as a significant negative mediator that loses its effect when central adiposity is accounted for.
This study demonstrates that integrating instantaneous frequency and amplitude into EEG microstate analysis reveals distinct alterations in brain state prevalence and network organization in Alzheimer's disease patients compared to healthy controls, offering a complementary approach to characterizing neurodegenerative dysfunction.
In a pilot randomized crossover trial involving nine Parkinson's disease patients, chronic adaptive and conventional deep brain stimulation demonstrated comparable population-level efficacy, though exploratory analyses suggest that individual baseline disease characteristics may influence specific treatment advantages, highlighting the need for larger studies to identify optimal patient subgroups.
This paper presents and validates a novel implantable device platform that utilizes secure large language models to enable bidirectional, real-time conversation between patients and an AI agent, allowing the system to co-manage epilepsy by detecting biomarkers, personalizing interactions, and rapidly adapting seizure detection algorithms without extensive expert intervention.
This study introduces MELD-PostOp, a deep learning tool trained on a large, multi-center cohort that achieves accurate, generalizable, and rapid (17-second) automated segmentation of post-surgical resection cavities on MRI, significantly outperforming existing methods in both accuracy and efficiency.
This study utilizes patient and family-reported data from 32 individuals to characterize the heterogeneous clinical spectrum of IRF2BPL-related disorders and provides evidence that missense variants are associated with a less severe phenotype compared to truncating variants.
This study demonstrates that integrating PD-specific neural mechanisms, specifically motor network dysfunction, into the validation of digital mobility outcomes significantly enhances their convergent validity with motor severity scales, suggesting a pathway to improve regulatory approval and clinical adoption.
This study demonstrates that a multi-session hierarchical Bayesian model (MS-HBM) can reliably map individual-specific resting-state networks in drug-resistant epilepsy patients using short fMRI sessions, enabling accurate prediction of task-based language dominance for presurgical planning.
This study utilizes three-dimensional gait analysis to characterize the heterogeneous gait deviations in STXBP1-related disorder, identifying externally rotated foot progression as the most common pattern and demonstrating that the age of independent walking onset predicts future community mobility while validating observational scoring as a practical alternative to instrumental analysis.
This paper introduces the AD Atlas, a comprehensive online multi-omics resource that integrates data from over 25 large-scale studies to map nearly one million molecular associations across genes, proteins, metabolites, and phenotypes, thereby enabling data-driven discovery of Alzheimer's disease mechanisms through a unified network view.
This study demonstrates that targeted long-read RNA sequencing (Amp-LRS) is a sensitive, cost-effective, and versatile method for functionally validating non-coding variants predicted to alter splicing in rare neurological disorders, successfully confirming pathogenic mechanisms in all five tested patients using accessible tissues.
This study identifies novel pathogenic missense variants in the PCDH12 gene that cause neurodevelopmental disorders with ocular malformations by disrupting both homophilic and heterophilic adhesion mechanisms, thereby expanding the known genotype-phenotype spectrum beyond previously characterized loss-of-function mutations.
A UK-wide survey of stroke clinicians reveals strong support for a future intracerebral haemorrhage platform trial, identifying the perceived importance of the research question as a key facilitator while highlighting clinician treatment preferences, staffing, and study design complexities as primary barriers to recruitment.
This prospective longitudinal study of 450 Parkinson's disease patients demonstrates that poor visual function, particularly when combined with specific genetic risk factors such as GBA1 variants and polygenic risk scores for Parkinson's and Alzheimer's diseases, significantly predicts progression to cognitive impairment, offering a strategy to enrich clinical trials for more efficient dementia intervention studies.
This paper outlines the protocol for a prospective, multisite, randomized controlled trial designed to evaluate the efficacy of the BodyMirror Clinical MS platform—a multimodal digital therapeutic combining wearable biosensors and game-based neurorehabilitation—in remotely monitoring disease progression and delivering personalized treatment for 300 individuals with multiple sclerosis over a 24-month period.
The CAMERA study is a longitudinal observational investigation in Toronto designed to address the underrepresentation of South Asian and Chinese populations in dementia research by enrolling 300 adults to examine ethnic differences in vascular, metabolic, and cognitive profiles, with preliminary findings indicating that lower MoCA scores in these groups are largely driven by culturally and linguistically biased assessment items.