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
AI-driven reconstruction of the evidence architecture of hydrogel-based intervertebral disc repair research. [PDF]
Wang Y +7 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
Editorial: Assessment of biomechanical mechanism in the context of sports injury prevention or rehabilitation. [PDF]
Innocenti B.
europepmc +1 more source
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Editorial: Advancements in head and neck tumor treatment strategy driven by the perspective of precision oncology. [PDF]
Liao L, Feng Q, Xie S.
europepmc +1 more source
Artificial Intelligence-Driven Social Media Analysis of Vaccine Hesitancy, Confidence, and Trust in Africa: A Scoping Review. [PDF]
Abdulrauf H +6 more
europepmc +1 more source
Editorial: Axon neurobiology: updates in functional and structural dynamics. [PDF]
Kamiya H, Debanne D.
europepmc +1 more source
Intraoperative Hyperspectral Imaging for Perfusion Assessment and Emerging Decision Support in Abdominal Surgery: A Systematic Review of Clinical Studies. [PDF]
Muntean C +4 more
europepmc +1 more source

