Results 231 to 240 of about 1,574,435 (263)

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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp, Ludwig Karrasch, Helena Breitenstein, Andreas Straube, Katharina Kamm   +4 more
wiley   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients

Arthritis Care &Research, EarlyView.
Objective Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla, Timothy G. Brandon, Dmitry Khrichenko, Rui Xiao, Nancy A. Chauvin, Asef Khwaja, Pamela F. Weiss   +6 more
wiley   +1 more source

Clinical Conditions Associated With a High Antinuclear Antibody Titer in Individuals Without Autoimmune Disease

Arthritis Care &Research, EarlyView.
Objective Antinuclear antibodies (ANAs) are present at high titers in 2% of the general population, but their clinical significance in individuals without an autoimmune (AI) disease is not known. We tested the hypothesis that the presence of a high ANA titer in non‐AI conditions is associated with disease.
Matthew Chung, John P. Shelley, Gul Karakoc, John Still, Xiaodi Ruan, Jonathan Mosley, C. Michael Stein, Vivian K. Kawai   +7 more
wiley   +1 more source

The Renal Activity Index for Lupus Identifies Active Renal Disease and Treatment Response in Adult Patients With Systemic Lupus Erythematosus and Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective We evaluated the ability of the Renal Activity Index for Lupus (RAIL) to discriminate active lupus nephritis (LN) in adult patients with active systemic lupus erythematosus (SLE) and differentiate LN treatment response. Methods Urine samples from adults with biopsy‐proven active class III and IV LN from TULIP‐LN (active LN group ...
Hermine I. Brunner, Ellen M. Cody, Prasad Devarajan, Bin Huang, Chen Chen, Dominic Sinibaldi, Madhu Ramaswamy, Jacob Knagenhjelm, Frederick Jones, Philip Z. Brohawn, Raj Tummala, Catharina Lindholm, Wendy I. White   +12 more
wiley   +1 more source

Current Tracking Adaptive Control of Brushless DC Motors

International Journal of Adaptive Control and Signal Processing, EarlyView.
In this paper, the current tracking for Brushless Direct Current motors is approached considering uncertainty in the parameters of the motor's model. An adaptive control scheme to compensate electrical parameters uncertainty is proposed without requiring any knowledge of the mechanical parameters.
Fernanda Ramos‐García, Axel Coronado‐Andrade, Gerardo Espinosa‐Pérez, Luis Alvarez‐Icaza   +3 more
wiley   +1 more source

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

Advanced 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, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source