Results 101 to 110 of about 202,120 (260)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 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
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
We study proper holomorphic maps of annuli in complex Euclidean spaces, that is, domains with $U(n)$ as the automorphism group. By the Hartogs phenomenon and a result of Forstnerič, such maps are always rational and extend to proper maps of balls. We first prove that a proper map of annuli from $n$ dimensions to $N$ dimensions where $N < \binom{n+1}{
Helal, Abdullah Al +2 more
openaire +2 more sources
Advanced Engineering Materials, Volume 27, Issue 6, March 2025.ErB4 and NdB4 nanostructured powders are produced by mechanochemical synthesis. 5 h mechanical alloying and 4 M HCl acid leaching are used in the production. ErB4 and NdB4 powders exhibit maximum magnetization of 0.4726 emu g−1 accompanied with an antiferromagnetic‐to‐paramagnetic phase transition at about TN = 18 K and 0.132 emu g−1 with a maximum at ...
Burçak Boztemur +5 more
wiley +1 more source
Advanced Engineering Materials, EarlyView.The tribological behavior of 100Cr6 steel spheres textured via Vickers microindentation is evaluated under lubricated sliding by varying both dimple size and density. Fine and dense textures significantly reduce friction across all lubrication regimes, while large dimples increase it.
Farideh Davoodi +3 more
wiley +1 more source
Advanced Engineering Materials, EarlyView.This study demonstrates an efficient recycling route for out‐of‐spec AlSi10Mg atomized powders through compaction and arc remelting followed by suction casting. By correlating compaction load, cooling rate, and resulting microstructure, we show that intermediate pressures (50–80 kN) and rapid cooling refine dendrites, reduce porosity, and enhance ...
Mila Christy de Oliveira +4 more
wiley +1 more source
𝐴-proper mappings and their uniform limits [PDF]
Bulletin of the American Mathematical Society, 1972 openaire +3 more sources
On the homotopy equivalence of the spaces of proper and local maps
Open Mathematics, 2014 Bartłomiejczyk Piotr +1 more
doaj +1 more source
A Compact Spin‐Coated Graphene UWB Antenna for Breast Tumor Detection
Advanced Engineering Materials, EarlyView.A compact, spin‐coated graphene ultra‐wideband patch antenna designed for breast tumor detection, capable of distinguishing between malignant and benign tumors. This innovative antenna can serve as an effective initial screening tool, particularly in resource‐limited settings such as rural areas, where access to advanced medical equipment like MRI and ...
Raja Rashidul Hasan +9 more
wiley +1 more source