Results 61 to 70 of about 11,543 (307)
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 sourceResponse to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout
Arthritis Care &Research, EarlyView.Objective
Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.Pascal Richette, Anouk Walter‐Petrich, Quang Dinh Nguyen, Matthieu Resche‐Rigon, Quang Huy Dinh Nguyen, Minh Duc Do, Thao Phuong Mai, Tuan Duc Nguyen, Fernando Perez‐Ruiz, Emmanuel Letavernier, Tristan Pascart, Augustin Latourte, Hang Korng Ea, Thomas Bardin +13 morewiley +1 more sourceClinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease
Arthritis Care &Research, EarlyView.Objective
Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin +88 morewiley +1 more sourceLa sainteté contemporaine
Mélanges de la Casa de Velázquez, 2003 From the redefinition of canonisation procedures in the 17th century up to the II Vatican Council, the Catholic Church enriched its approach to sainthood as a theological, canonical and spiritual reality. In analysing this evolution into the present day, Benoît Pellistrandidoaj +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 sourceRipping yarns: Science in Asia [PDF]
, 2010 The article explores the life and works of botanist Joseph Rock, historian Joseph Needham, and physicist J. C. Bose. Rock's expeditions and personality have become an enduring part of China's history which shows the notion that scientists participate in ...Barker, Milescore +1 more sourceExploring Dipolar Dynamics and Ionic Transport in Metal‐Organic Frameworks: Experimental and Theoretical Insights
Advanced Functional Materials, EarlyView.In this study, the interplay of dipolar dynamics and ionic charge transport in MOF compounds is investigated. Synthesizing the novel structure CFA‐25 with integrated freely rotating dipolar groups, local and macroscopic effects, including interactions with Cs cations are explored.Ralph Freund, Arthur Schulz, Peter Lunkenheimer, Maryana Kraft, Thomas Bergler, Harald Oberhofer, Dirk Volkmer +6 morewiley +1 more source