Results 161 to 170 of about 226,550 (307)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Unsustainable human activities threaten the ecological security of arid and semi-arid watersheds. However, improving the connectivity of ecological networks can enhance ecosystem services and preserve biodiversity in these fragile environments.
Bojie Wang, Weichen Zhang, Yuyang Fan
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 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
, 2009 Little information is available regarding the landscape ecology of woodland invertebrate species with limited dispersal ability. An investigation was therefore conducted within woodland fragments in an agricultural landscape for the flightless wood ...
Brouwers, N.C., Newton, A.C.
core
Spatial Impact of Rural Landscape Pattern on Ecosystem Service in Hangzhou
ObjectiveChanges in landscape pattern often bring about alterations in the structure, process, and function of ecosystem. In the context of rapid urbanization, drastic changes in land use/land cover (LULC) significantly disturb the structure and function
Yiren XU +3 more
core +1 more source
Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang +4 more
wiley +1 more source
, 2009 This paper is intended to highlight the capabilities of synergistic usage of remote sensing, landscape metrics and gradient analysis. We aim to improve the understanding of spatial characteristics and effects of urbanization on city level ...
Taubenböck, Hannes +4 more
core
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
Designing multisource blue-green cooling networks by coupling landscape pattern metrics and circuit theory. [PDF]
Sci RepXu Y, Jiang M, Li Q, Yu B, Lee KE.
europepmc +1 more source