Results 161 to 170 of about 1,588,723 (306)

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini   +24 more
wiley   +1 more source

JMedBench: A Benchmark for Evaluating Japanese Biomedical Large Language Models [PDF]

open access: yesarXiv
Recent developments in Japanese large language models (LLMs) primarily focus on general domains, with fewer advancements in Japanese biomedical LLMs. One obstacle is the absence of a comprehensive, large-scale benchmark for comparison. Furthermore, the resources for evaluating Japanese biomedical LLMs are insufficient. To advance this field, we propose
arxiv  

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

Editorial: Relevant technology adaptation for bio medical application and sustainability

open access: yesFrontiers in Medical Technology, 2023
Anshuman Mishra, Manish Mishra
doaj   +1 more source

Ultrasound-driven triboelectric and piezoelectric nanogenerators in biomedical application

open access: yesJPhys Energy
Microelectronics play a crucial role in medical settings by monitoring physiological signals, treating illnesses, and enhancing human well-being. For implanted and wearable devices, a reliable and continuous energy source is essential. While conventional
Fu-Cheng Kao   +10 more
doaj   +1 more source

Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao   +4 more
wiley   +1 more source

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