RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Quasi-Static Penetration Resistance of Bio-Inspired Helicoidal Honeycomb Sandwich Panels: Experiments, Simulations, and Damage Mechanisms. [PDF]
Du X, Lian X, Wan C, Yu Z.
europepmc +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Experimental and numerical investigation of rubberized concrete beam-column joints subjected to monotonic loading. [PDF]
Salman WA +4 more
europepmc +1 more source
ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao +5 more
wiley +1 more source
Structural Damage Assessment and Resilience Evolution Prediction of Immersed Tunnels During Sand Foundation Loss Using In Situ Sensing Data. [PDF]
Chen W, Yu Z, Feng Z, Li Y, Chen B.
europepmc +1 more source
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
Oil Displacement Characteristics and Pore-Scale Response Mechanisms of Water-Sensitive Low-Permeability Sandstone under Multiple Flooding Processes. [PDF]
Zhou Z +7 more
europepmc +1 more source
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru +13 more
wiley +1 more source
Mesostructural fracture modeling of asphalt mixtures: Stochastic heterogeneity coupled with bilinear cohesive elements. [PDF]
Wan M, Liu Z.
europepmc +1 more source

