ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin +12 more
wiley +1 more source
Enhanced federated anomaly detection through autoencoders using summary statistics-based thresholding. [PDF]
Laridi S, Palmer G, Tam KM.
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
GWAShug: a comprehensive platform for decoding the shared genetic basis between complex traits based on summary statistics. [PDF]
Cao C +5 more
europepmc +1 more source
SUPERSEDED - Summary statistics for three depression phenotypes in UK Biobank
David M. Howard +21 more
openalex +1 more source
Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
Bayes factors for two-group comparisons in Cox regression with an application for reverse-engineering raw data from summary statistics. [PDF]
Linde M, Tendeiro JN, van Ravenzwaaij D.
europepmc +1 more source
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez +12 more
wiley +1 more source
Two-sample bi-directional causality between two traits with some invalid IVs in both directions using GWAS summary statistics. [PDF]
Chen S.
europepmc +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source

