Results 51 to 60 of about 59,741 (251)
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 morewiley +1 more sourcePredictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó +33 morewiley +1 more sourceMOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods
This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025. Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss +13 morewiley +1 more sourceLong‐Term Neurologic Exam Findings in People Diagnosed and Treated During Acute HIV Infection
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Evaluate clinical and laboratory correlates of abnormal neurologic exam findings after acute HIV infection (AHI). Methods
Participants from the RV254/SEARCH 010 cohort in Bangkok underwent standardized neurologic examinations at Weeks 0 (AHI), 12, 96, and 288 following antiretroviral therapy (ART).Kathryn B. Holroyd, Tyler Hamby, Carlo Sacdalan, Somchai Sriplienchan, Pathariya Promensa, Luxenaree Poonpitak, Netsiri Dumrongpisutikul, Eugène Kroon, Sandhya Vasan, Robert Paul, Ferron O'Campo, Lydie Trautmann, Phillip Chan, Serena Spudich, on behalf of the RV254/SEARCH 010 Study Team, Julie Ake, Sandhya Vasan, Lydie Trautmann, Merlin Robb, Trevor Crowell, Donn Colby, Diane Bolton, Shelly Krebs, Leigh Ann Eller, Morgane Rolland, Rasmi Thomas, Dominic Paquin Proulx, Suteeraporn Pinyakorn, Tyler Hamby, Mark de Souza, Ellen Turk, Amber Moodley, Gerald Quarles, Jintanat Ananworanich, Denise Hsu, Victoria Polonis, Nelson Michael, Sheila Peel, COL Eric Garges, Alexandra Schuetz, Siriwat Akapirat, Bessara Nantapinit, Pornsuk Visudhiphan, Saowanit Getchalarat, Nampueng Churikanont, Sangsulee Thamakaison, Somchai Sriplienchan, Carlo Sacdalan, Pathariya Promsena, Luxe‐naree Poonpitak, Eugene Kroon, Nitiya Chomchey, Jintana Intasan, Varaporn Pothipala, Ferron Ocampo, Nittaya Phanuphak, Nipat Teeratakulpisan, Yuwaree Pichitchok, Anchalee Avihingsanon, Opass Putcharoen, Kiat Ruxrungtham, Thanyawee Puthanakit, Sopark Manasnayakorn, Phandee Watanaboonyongcharoen, Rungsun Rerknimitr, Irini Sereti, Daniel Douek, Eli Bortiz, Frank Maldarelli, Mary Kearney, Serena Spudich, Phillip Chan, Lishomwa Ndhlovu, Guinevere Li, Michael Corley, Victor Valcour, Peter Hunt, Jacob Estes, Afam Okoye, Jeff Lifson, Claire Deleage, Nicolas Chomont, Andres Finzi, Lyle McKinnon, Henrik Zetterberg, Robert Siliciano, Robert Paul, Julie Mannarino, Jonathan Li, John Mellors, Josh Cytkor, Dan Barouch, Michael Seaman, Boris Juelg, Alex Shalek, Timothy Schacker, Ashley Haase, Mario Stevenson, Wenjun Li, Arthur Kim, Sharon Lewin, Adam Carrico, Susana Valente, Fred Hutchinson, Josh Schiffer, Guido Ferrari, Beau Ances, Alberto Bosque, Katharine Bar, Killian Pohl, David Ho, Yaoxing Huang, Michael Busch, Mohamed Abdel‐Mohsen, Johanna Gostner, Brian Agan, Fatah Kashanchi, Greg Laird, Kathryn Holroyd +118 morewiley +1 more sourceA large-sample modelling approach towards integrating streamflow and evaporation data for the Spanish catchments [PDF]
Hydrology and Earth System SciencesThe simultaneous incorporation of streamflow and evaporation data into sensitivity analysis and calibration approaches has great potential to improve the representation of hydrologic processes in modelling frameworks.P. Yeste, P. Yeste, P. Yeste, M. García-Valdecasas Ojeda, M. García-Valdecasas Ojeda, S. R. Gámiz-Fortis, S. R. Gámiz-Fortis, Y. Castro-Díez, Y. Castro-Díez, A. Bronstert, M. J. Esteban-Parra, M. J. Esteban-Parra +11 moredoaj +1 more sourceDifferential Item Functioning on the Patient Health Questionnaire 8 by Disease Subtype, Language, Sex, and Age Among People With Systemic Sclerosis: A Scleroderma Patient‐Centered Intervention Network Cohort Study
Arthritis Care &Research, EarlyView.Objective
Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.Sophie Hu, Marie‐Eve Carrier, Marie‐Claude Geoffroy, Meira Golberg, Linda Kwakkenbos, Susan J. Bartlett, Catherine Fortuné, Amy Gietzen, Karen Gottesman, Geneviève Guillot, Laura K. Hummers, Amanda Lawrie‐Jones, Vanessa L. Malcarne, Michelle Richard, Maureen Sauvé, Luc Mouthon, Andrea Benedetti, Brett D. Thombs, on behalf of the SPIN Investigators, Claire E. Adams, Marie Hudson, Maureen D. Mayes, James Stempel, Robyn K. Wojeck, Christian Agard, Laurent Alric, Marc André, Floryan Beaslay, Elana J. Bernstein, Sabine Berthier, Lyne Bissonnette, Sophie Blaise, Eva Bories, Alessandra Bruns, Carlotta Cacciatore, Patricia Carreira, Marion Casadevall, Benjamin Chaigne, Lorinda Chung, Benjamin Crichi, Thylbert Deltombe, Christopher P. Denton, Tannvir Desroche, Robyn Domsic, James V. Dunne, Bertrand Dunogue, Regina Fare, Dominique Farge‐Bancel, Paul R. Fortin, Tracy Frech, Loraine Gauzère, Anne Gerber, Jessica K. Gordon, Brigitte Granel‐Rey, Aurélien Guffroy, Geneviève Gyger, Eric Hachulla, Daphna Harel, Monique Hinchcliff, Sabrina Hoa, Michael Hugues, Alena Ikic, Sindhu R. Johnson, Nader Khalidi, Kimberly S. Lakin, Marc Lambert, Maggie Larche, David Launay, Yvonne C. Lee, Paul Legendre, Catarina Leite, Hélène Maillard, Nancy Maltez, Joanne Manning, Isabelle Marie, Maria Martin Lopez, Thierry Martin, Ariel Masetto, Arsène Mekinian, Sheila Melchor Díaz, Morgane Mourguet, Christelle Nguyen, Karen Nielsen, Mandana Nikpour, Louis Olagne, Vincent Poindron, Janet Pope, Susanna Proudman, Grégory Pugnet, Loïc Raffray, François Rannou, Alexis Régent, Frederic Renou, Sébastien Rivière, David Robinson, Esther Rodríguez Almazar, Tatiana Sofia Rodríguez‐Reyna, Sophie Roux, Perrine Smets, Vincent Sobanski, Robert F. Spiera, Virginia Steen, Evelyn Sutton, Carter Thorne, Damien Vagner, John Varga, Pearce Wilcox, Vanessa Cook, Cassidy Dal Santo, Monica D'Onofrio, Elsa‐Lynn Nassar +110 morewiley +1 more sourcePrevalence of Systemic Lupus Erythematosus in Australia, 2010–2022: A Population‐Based Study Using Linked National Administrative Health Data
Arthritis Care &Research, EarlyView.Objective
Systemic lupus erythematosus (SLE) is a heterogenous inflammatory condition with widely varying global prevalence estimates. The frequency of SLE in the general population of Australia has been reported to be notably lower than contemporary estimates in countries such as the United States or United Kingdom, at 19 to 39 per 100,000 as opposed ...Lucinda Roper, Rachel Black, Joanna Tieu, Winnie Chen, Matthew Parker, Catherine Hill, Natasha Nassar, Mandana Nikpour +7 morewiley +1 more source