Results 281 to 290 of about 10,751,278 (348)

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier   +20 more
wiley   +1 more source

Genome phylogenetic analysis of Brucella melitensis in Northwest China. [PDF]

open access: yesBMC Microbiol
Cao X   +12 more
europepmc   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi   +7 more
wiley   +1 more source

Scaling Up Synthetic Cell Production Using Robotics and Machine Learning Toward Therapeutic Applications

open access: yesAdvanced Biology, EarlyView.
Synthetic cells (SCs) hold great promise for biomedical applications, but manual production limits scalability. This study presents an automated method for large‐scale SC synthesis, integrating robotic liquid handling and machine learning‐driven high‐throughput characterization.
Noga Sharf‐Pauker   +7 more
wiley   +1 more source

Benchmarking of Human Read Removal Strategies for Viral and Microbial Metagenomics

open access: yes
Forbes M   +14 more
europepmc   +1 more source

FAIR and Structured Data: A Domain Ontology Aligned with Standard‐Compliant Tensile Testing

open access: yesAdvanced Engineering Materials, EarlyView.
The digitalization in materials science and engineering is discussed, emphasizing the importance of digital workflows and ontologies in managing diverse experimental data. Challenges such as quality assurance and data interoperability are tackled with semantic web technologies, focusing and introducing the tensile test ontology (TTO).
Markus Schilling   +6 more
wiley   +1 more source

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