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
From Eyes to Cameras to Kinetics: Computer Vision for Chemical Process Monitoring. [PDF]
Barrington H +5 more
europepmc +1 more source
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Stress, eating, and the structure of time in ADHD: A phenomenological perspective on ecological momentary assessment. [PDF]
Jerotic S.
europepmc +1 more source
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
Assessing European cities with the 3-30-300 rule underscores the need for enhanced urban greening efforts. [PDF]
Bertassello LE +5 more
europepmc +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
M<sup>2</sup>AML: Metric-Based Model-Agnostic Meta-Learning for Few-Shot Classification. [PDF]
Han X, Shi D, Wang Z, Yang S.
europepmc +1 more source
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec +6 more
wiley +1 more source
Simulation-Based Optimization over Discrete Spaces Using Projection to Continuous Latent Spaces. [PDF]
Hernández-Morales G +3 more
europepmc +1 more source

