Results 61 to 70 of about 405,410 (243)
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods
Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca +39 morewiley +1 more sourceDiagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari +12 morewiley +1 more sourceOnasemnogene 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 morewiley +1 more sourceReperfusion‐Dependent Outcomes After Endovascular Thrombectomy Stratified by NIHSS‐ASPECTS Clinical‐Core Mismatch
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
This analysis evaluates the effect of successful reperfusion on functional outcomes after MT, stratified by admission National Institutes of Health Stroke Scale (NIHSS) and Alberta Stroke Program Early CT Score (ASPECTS) as surrogates for clinical‐core mismatch, using multicenter registry data.Felix Schlicht, Lukas Meyer, Gabriel Broocks, Matthias Bechstein, Christian Thaler, Christian Heitkamp, Laurens Winkelmeier, Vincent Geest, Alexander Heitkamp, Maximilian Jungnitz, Gregor Peter, Luca Meucci, Tobias Faizy, Jawed Nawabi, Caspar Brekenfeld, Fabian Flottmann, Maximilian Schell, Alexandros Hadjilaou, Uta Hanning, Götz Thomalla, Jens Fiehler, Susanne Gellißen, Helge C. Kniep, for the German Stroke Registry Endovascular Treatment, (GSR‐ET) Alexander Nave, Anna Alegiani, Annerose Mengel, Arno Reich, Bernd Eckert, Charlotte Pietrock, Christian Nolte, Eberhard Siebert, Fabian Flottmann, Fee Keil, Franziska Dorn, Gabor Petzold, Götz Thomalla, Hanna Zimmermann, Jan Borggrefe, Jan Hendrik Schäfer, Jens Fiehler, Joachim Röther, Klaus Gröschel, Lars Kellert, Mario Abruscato, Maximilian Schell, Omid Nikoubashman, Peter Schellinger, Silke Wunderlich, Steffen Tiedt, Sven Thonke, Timo Uphaus, Tobias Boeckh‐Behrens, Ulrike Ernemann +53 morewiley +1 more sourceCracking 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 morewiley +1 more sourceStorybooks Canada, English Language Learners, and the School Curriculum
BC TEAL Journal, 2020 Given the large number of students from immigrant and refugee backgrounds in Canadian schools, our study investigates to what extent an open access multilingual digital platform, Storybooks Canada (https://www.storybookscanada.ca/), might serve the ...Michelle Gilman, Bonny Nortondoaj Hip Morphology–Based Osteoarthritis Risk Prediction Models: Development and External Validation Using Individual Participant Data From the World COACH Consortium
Arthritis Care &Research, EarlyView.Objective
This study aims to develop hip morphology‐based radiographic hip osteoarthritis (RHOA) risk prediction models and investigates the added predictive value of hip morphology measurements and the generalizability to different populations. Methods
We combined data from nine prospective cohort studies participating in the Worldwide Collaboration ...Myrthe A. van den Berg, Fleur Boel, Michiel M. A. van Buuren, Noortje S. Riedstra, Jinchi Tang, Harbeer Ahedi, Nigel K. Arden, Sita M. A. Bierma‐Zeinstra, Cindy G. Boer, Flavia M. Cicuttini, Timothy F. Cootes, David T. Felson, Willem Paul Gielis, Joshua Heerey, Graeme Jones, Stefan Kluzek, Nancy E. Lane, Claudia Lindner, Joyce B. J. van Meurs, Andrea Mosler, Amanda E. Nelson, Michael C. Nevitt, Edwin H. Oei, Jos Runhaar, Harrie Weinans, Jesse H. Krijthe, Rintje Agricola +26 morewiley +1 more sourcePreferences 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 morewiley +1 more sourceSerum Soluble Mediator Signatures of Lupus Nephritis: Histologic Features and Response to Treatment
Arthritis Care &Research, EarlyView.Objective
Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histologic features and treatment response.Andrea Fava, Catriona A. Wagner, Carla J. Guthridge, Susan Macwana, Wade DeJager, Melissa E. Munroe, Peter Izmirly, H. Michael Belmont, Betty Diamond, Anne Davidson, Paul J. Utz, Michael H. Weisman, Philip M. Carlucci, Maria Dall'Era, Kenneth Kalunian, Chaim Putterman, Jennifer Anolik, Jennifer L. Barnas, David Wofsy, Diane Kamen, Richard A. Furie, Deepak A. Rao, the Accelerating Medicines Partnership Rheumatoid Arthritis and Systemic Lupus Erythematosus Network, Chun‐Hao Lee, Derek Fine, Manny Monroy‐Trujillo, Ummara Shah, Mariko Ishimori, Robert M. Clancy, Michael Belmont, Ming Wu, Nicole Bornkamp, Evan Der, Beatrice Goilav, Nicole Jordan, Daniel Schwartz, James Pullman, David Wofsy, Dawn Smilek, Patti Tosta, Matthias Kretzler, Celine C. Berthier, E. Steve Woodle, Dave Hildeman, Michael Brenner, Michelle Petri, Joel M. Guthridge, Jill Buyon, Judith A. James +48 morewiley +1 more source