Results 131 to 140 of about 6,936,245 (306)

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +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

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, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Optimizing Extracellular Products from Vibrio proteolyticus for Their Use as Postbiotics in Aquaculture. [PDF]

Mar Biotechnol (NY)
García-Márquez J, Domínguez-Maqueda M, Pérez-Gómez O, Cerezo IM, Espinosa-Ruíz C, Esteban MÁ, Vallejo F, Alarcón-López FJ, Martínez-Manzanares E, Tapia-Paniagua ST, Balebona MC, Moriñigo MÁ, Arijo S.   +12 more
europepmc   +1 more source

Virulence of Aeromonas hydrophila to channel catfish Ictaluras punctatus fingerlings in the presence and absence of bacterial extracellular products.

Diseases of Aquatic Organisms, 2011
J. Pridgeon, P. Klesius
semanticscholar   +1 more source

Combining Three Peripheral Blood Biomarkers to Stratify Rheumatoid Arthritis–Associated Interstitial Lung Disease Risk

Arthritis Care &Research, EarlyView.
Objective The purpose was to evaluate a biomarker score consisting of MUC5B rs35705950 promoter variant, plasma matrix metalloproteinase‐7 (MMP‐7), and serum anti–malondialdehyde‐acetaldehyde (anti‐MAA) antibody for rheumatoid arthritis (RA)–associated interstitial lung disease (ILD) risk stratification.
Kelsey Coziahr, Austin M. Wheeler, Brent A. Luedders, Michael Duryee, Halie Frideres, Katherine D. Wysham, Grant W. Cannon, Gary Kunkel, Dana P. Ascherman, Paul A. Monach, Gail S. Kerr, Andreas M. Reimold, Scott M. Matson, Joshua F. Baker, Geoffrey M. Thiele, Ted R. Mikuls, Bryant R. England   +16 more
wiley   +1 more source

Metabolite-Driven Modulation of Biofilm Formation in Shewanella: Insights from Shewanella sp. Pdp11 Extracellular Products. [PDF]

Microb Ecol
Pérez-Gómez O, Domínguez-Maqueda M, García-Márquez J, Moriñigo MÁ, Tapia-Paniagua ST.   +4 more
europepmc   +1 more source

Toxicity of Crude Extracellular Products of Aeromonas hydrophila on Rohu, Labeo rohita (Ham.)

Indian Journal of Microbiology, 2011
I. Sahu, B. Das, N. Marhual, M. Samanta, B. K. Mishra, A. E. Eknath   +5 more
semanticscholar   +1 more source

Harnessing Fungal Biowelding for Constructing Mycelium‐Engineered Materials

Advanced Engineering Materials, EarlyView.
Mycelium‐bound composites (MBCs) offer low‐carbon alternatives for construction, yet interfacial bonding remains a critical challenge. This review examines fungal biowelding as a biocompatible adhesive, elucidating mycelium‐mediated interfacial mechanisms and their role in material assembly. Strategies to optimize biowelding are discussed, highlighting
Xue Brenda Bai, Xinrui Sarah Niu, Zhao Qin   +2 more
wiley   +1 more source