Results 121 to 130 of about 5,666,140 (279)

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

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Parental/grandparental education involvement and adolescents’ learning engagement: a moderated mediation model

Frontiers in Psychology
Parental and grandparental involvement are associated with students’ educational success. However, few studies have explored the different effects of parental and grandparent education involvement on students’ academic performance. This study constructed
Xiaoqing Xiang, Xiaofeng Huang, Mengyue Zhao, Jing Wang, Qian Shao   +4 more
doaj   +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

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Preferences for post‐traumatic osteoarthritis prevention strategies in individuals with anterior cruciate ligament injury

Arthritis Care &Research, Accepted Article.
Objectives There is growing interest in evaluating new strategies to delay or prevent post‐traumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury.
Kevin Kennedy, Lily Waddell, Adam Easterbrook, Jeffrey N. Katz, Cale Jacobs, Morgan Jones, Faith Selzer, Elena Losina, Liana Fraenkel, Nick Bansback   +9 more
wiley   +1 more source

Effectiveness and Safety of Baricitinib for Juvenile Idiopathic Arthritis–Associated Uveitis or Chronic Anterior Antinuclear Antibody–Positive Uveitis

Arthritis Care &Research, EarlyView.
Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan, Catherine M. Guly, Gabriele Simonini, Stuart Y. Keller, Priyanka Sen, Thorsten Holzkaemper, Joana Araújo, Pierre Quartier   +7 more
wiley   +1 more source

Motivation des parents à s’engager dans l’accompagnement scolaire de leur enfant au préscolaire : l’influence des croyances émotionnelles

Sociétés et Jeunesses en Difficulté, 2019
The growing interest of the educational sciences in the issue of parental involvement is undeniable; this is evidenced by the large and constantly increasing number of scientific publications on the subject.
Débora Poncelet, Mélanie Tinnes-Vigne, Christophe Dierendonck   +2 more
doaj  

Testing a Personalized Approach to Chronic Low Back Pain: A Randomized Controlled Trial in Older Veterans

Arthritis Care &Research, EarlyView.
Objective We aimed to test the efficacy of personalized treatment of older veterans with chronic low back pain (CLBP) delivered by Aging Back Clinics (ABCs) as compared with usual care (UC). Methods Two hundred ninety‐nine veterans aged 65 to 89 with CLBP from three Veterans Affairs (VA) medical centers underwent baseline testing, randomization to ABC ...
Debra K. Weiner, Angela Gentili, Meika A. Fang, Edward Garay, Laura Lawson, Lenore Joseph, Cathy C. Lee, Michelle I. Rossi, Beverly Thorn, Subashan Perera   +9 more
wiley   +1 more source