Results 81 to 90 of about 197,388 (261)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Separation of cis/trans fatty acid isomers on gas chromatography compared to the Ag-TLC method
Grasas y Aceites, 2013 The present study investigates the separation of the cis/trans isomers of fatty acids on the 75 m SP2560 column under different gas chromatographic (GC) conditions including an isothermal program and a time-temperature program.
C. Ravi Kiran +2 more
doaj +1 more source
Reye's syndrome and short‐chain fatty acids [PDF]
Neurology, 1985 Krause, Klaus-Henning +2 more
openaire +3 more sources
The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort
Arthritis Care &Research, EarlyView.Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo +9 more
wiley +1 more source
Laser‐Induced Graphene from Waste Almond Shells
Advanced Functional Materials, EarlyView.Almond shells, an abundant agricultural by‐product, are repurposed to create a fully bioderived almond shell/chitosan composite (ASC) degradable in soil. ASC is converted into laser‐induced graphene (LIG) by laser scribing and proposed as a substrate for transient electronics.
Yulia Steksova +9 more
wiley +1 more source
Advanced Functional Materials, EarlyView.A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo +7 more
wiley +1 more source
Electrostatically‐Stabilized PEG‐Free Lipid Nanoparticles for Systemic Nucleic Acid Delivery
Advanced Functional Materials, EarlyView.This work describes non‐PEGylated layered lipid nanoparticles (nonPEG LLNPs), a gene delivery platform that improves upon standard PEGylated LNPs via electrostatic adsorption of charged polymers. nonPEG LLNPs maintain colloidal stability under biological stresses, enhance circulation time, and mitigate accelerated blood clearance and hepatic ...
Namita Nabar +4 more
wiley +1 more source
Advanced Functional Materials, EarlyView.Molecular rotors are fluorescent molecules that are sensitive to viscosity and temperature variations in the environment. They exhibit a direct correlation between fluorescence and viscosity within Newtonian fluids. However, this correlation becomes less straightforward in complex systems.
Flavia Di Scala +6 more
wiley +1 more source