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
Adult companion dogs allocate social proximity toward owners over household dogs under competing contexts. [PDF]
Ferrans M, Hare B, McHenry J.
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 frailty in aged zebrafish using a quick pseudo-frailty index. [PDF]
Hyde AC +5 more
europepmc +1 more source
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
LSTM-augmented vine copula modelling for energy-finance contagion analysis. [PDF]
Zeng L, Huang J, Lin X.
europepmc +1 more source
Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani +10 more
wiley +1 more source
BullFish: Software for an automated stepwise analysis of positional and postural kinematics of zebrafish locomotion. [PDF]
Sin-Hang Yeung S +6 more
europepmc +1 more source
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi +9 more
wiley +1 more source
A Sequential Design for Extreme Quantile Estimation Under Binary Sampling. [PDF]
Broniatowski M, Miranda E.
europepmc +1 more source

