Results 171 to 180 of about 92,239 (294)
Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang +5 morewiley +1 more sourcePlasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad +11 morewiley +1 more sourceSubclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani +13 morewiley +1 more sourceT1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods
Thirty individuals with MS (mean age: 47.5 ± Sarah J. Wright, Scotty G. McKay, Jean Ramos Bou, Fen Bao, Vivian B. Truong, Chenyang Li, Li Jiang, Anza B. Memon, E. Mark Haacke, Yulin Ge, Yongsheng Chen +10 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 sourceEvaluation of a Novel Electric Health Record Sidecar Application to Display Rheumatoid Arthritis Clinical Outcomes During Clinic Visits: Results of a Stepped‐Wedge Cluster Randomized Pragmatic Trial
Arthritis Care &Research, EarlyView.Objective
We developed a novel electronic health record sidecar application to visualize key rheumatoid arthritis (RA) outcomes, including disease activity, physical function, and pain, via a patient‐facing graphical interface designed for use during outpatient visits (“RA PRO dashboard”).Gabriela Schmajuk, Jing Li, Cathy Nasrallah, Cherish Wilson, Alicia Hamblin, Christine Hariz, Cammie Young, Stephen Shiboski, Emma Kersey, Mary Nakamura, Judith F. Ashouri, Mehrdad Matloubian, Andrew J. Gross, Jennifer Barton, Beth Berrean, Jonathan Prugh, Jinoos Yazdany +16 morewiley +1 more sourceAssociation Between Symptomatic Knee Osteoarthritis and Target Glycemic Control in Individuals With Type 2 Diabetes
Arthritis Care &Research, EarlyView.Objective
Knee osteoarthritis (OA) commonly affects individuals with type 2 diabetes (T2DM) and is associated with increased risk of diabetes‐related complications. To better understand potential mechanisms, we examined the association between symptomatic knee OA and glycemic control in individuals with T2DM.Lauren K. King, Alanna Weisman, Baiju R. Shah, Robert Goldberg, Amish Parikh, Ian Stanaitis, Vivian Hung, Rosane Nisenbaum, Abdalmohsen Almodahka, Lorraine Lipscombe, Gillian A. Hawker +10 morewiley +1 more sourceEvaluating a Pragmatic Strength Alternative for Frailty Measurement and Assessing Its Predictive Capacity Against Established Frailty Instruments in Rheumatoid Arthritis
Arthritis Care &Research, EarlyView.Objective
Frailty occurs prematurely in rheumatoid arthritis (RA) and is associated with poor health outcomes. We compared the performance of four frailty instruments, including a pragmatic alternative measure using chair sit‐to‐stand (STS), and evaluated their abilities to predict poor health outcomes.Kylie E. Riggles, Hannah F. Brubeck, Adrienne D. Tanus, Courtney N. Loecker, Punyasha Roul, Bryant R. England, Elizabeth R. Wahl, James S. Andrews, Namrata Singh, Joshua F. Baker, Patricia P. Katz, Dolores M. Shoback, Jose M. Garcia, Ariela R. Orkaby, Katherine D. Wysham +14 morewiley +1 more source