Results 111 to 120 of about 653,662 (247)

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano   +15 more
wiley   +1 more source

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

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

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman   +2 more
wiley   +1 more source

EEG Response to Sedation Interruption Complements Behavioral Assessment After Severe Brain Injury

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate assessment of the level of consciousness and potential to recover in patients with severe brain injury underpins crucial decisions in the intensive care unit but remains a major challenge for the clinical team. The neurological wake‐up test is a widely used assessment tool. However, many patients' behavioral responses during
Charlotte Maschke   +12 more
wiley   +1 more source

Data‐driven forecasting of ship motions in waves using machine learning and dynamic mode decomposition

open access: yesInternational Journal of Adaptive Control and Signal Processing, EarlyView.
Summary Data‐driven forecasting of ship motions in waves is investigated through feedforward and recurrent neural networks as well as dynamic mode decomposition. The goal is to predict future ship motion variables based on past data collected on the field, using equation‐free approaches.
Matteo Diez   +2 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

open access: yesAdvanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio   +11 more
wiley   +1 more source

Current and Future Cornea Chip Models for Advancing Ophthalmic Research and Therapeutics

open access: yesAdvanced Biology, EarlyView.
This review analyzes cornea chip technology as an innovative solution to corneal blindness and tissue scarcity. The examination encompasses recent developments in biomaterial design and fabrication methods replicating corneal architecture, highlighting applications in drug screening and disease modeling while addressing key challenges in mimicking ...
Minju Kim   +3 more
wiley   +1 more source

Novel Biologically Active Glass Fiber Functionalized Using Magnesium Phosphate Cement Promotes Bone and Vascular Regeneration

open access: yesAdvanced Biology, EarlyView.
In this study, a new type of bioactive glass fiber ‐based composite magnesium phosphate bone cement is prepared and verified that its mechanical strength and biological properties. In addition, the cement may have played a biologically active role in the Notch and HIF signaling pathways.
Yuzheng Lu   +12 more
wiley   +1 more source

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