Results 121 to 130 of about 7,464 (211)

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

Bioaccessibility of Phenolic Compounds and Antioxidant Capacity of Pulai (<i>Alstonia scholaris</i>) Leaf Tea and Characterization of Bioactive Compounds Using Ultra-High-Performance Liquid Chromatography Coupled with High-Resolution Mass Spectrometry. [PDF]

Prev Nutr Food Sci
Prangdimurti E, Hondo HA, Saraswati, Palupi NS, Lioe HN.   +4 more
europepmc   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Hydrogen Peroxide-Oxidative Signaling Enhances Biosynthesis of Specialized Metabolites in <i>Baccharis conferta</i> Kunth. [PDF]

Int J Mol Sci
Moreno-Anzúrez NE, Sarmiento-Ramírez CS, Gutiérrez-Román AS, Medina-Pérez V, Garibay-Castro LR, Rubio-Rodríguez E, Trejo-Tapia G.   +6 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Twist and Shine: The Impact of Halogen Substitution on Thiele Hydrocarbon's Optical Properties. [PDF]

Angew Chem Int Ed Engl
Punzi A, Ullrich T, Orza M, Mesto D, Moliterni A, Olieric V, Engilberge S, Giannini C, Negri F, Guldi DM, Blasi D, Farinola GM.   +11 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Regional Variation in Mulberry Leaf Metabolites: A Combined Metabolomic and Environmental Analysis of Biosynthetic Drivers. [PDF]

Metabolites
Zhou Y, Li M, Zhao J, Yang L, Li F, Xu J, Chen J, Chen Y, Xu D, Feng D, Wu W, Hou K.   +11 more
europepmc   +1 more source

Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li, Guilin Meng, Zijie Wang, Xiao Hu, Jing Cheng, Chu Chen, Tiannan Yang, Jiaxin Luo, Zizhen Meng, Xueyun Liu, Qi Li   +10 more
wiley   +1 more source

UHPLC-QTOF-MS Profiling of Chemical Constituents in POW9^TM Cocktail with Antioxidant and Anti-Proliferative Potentials Against Vero, MCF-7 and MDA-MB-231 Cells. [PDF]

Int J Mol Sci
Taworntawat C, Tonkittirattanakul P, Koonyosying P, Perrodin DD, Srichairatanakool S, Tipsuwan W.   +5 more
europepmc   +1 more source