Results 191 to 200 of about 253,583 (255)

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

Use of DOOR and Win-Ratio Analysis in a Secondary Evaluation of a Histoplasmosis Clinical Trial. [PDF]

Open Forum Infect Dis
Vieceli T, Dai B, Falci DR, Dalla-Lana D, Godoy CSM, Soares RBA, Bay MB, Vechi H, Leitao TMJS, Damasceno LS, Melo MG, Bahr NC, Boulware DR, Pasqualotto AC.   +13 more
europepmc   +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

Comparative efficacy and safety of different posterior surgical approaches for Intra-articular distal humerus fractures. [PDF]

J Orthop Surg Res
Yao H, Chen W, Lin Z, Cao H.
europepmc   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Optimizing renewable energy investments using artificial intelligence-based multi-facet fuzzy decision models. [PDF]

Sci Rep
Dinçer H, Yüksel S, Aksoy T, Hacıoğlu Ü.   +3 more
europepmc   +1 more source

Serum 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 more
wiley   +1 more source

Critical impact of automobile industry with advanced decision support system and Aczél-Alsina Hammy mean operators. [PDF]

Sci Rep
Hussain A, Ullah K, Ali Z, Pamucar D.
europepmc   +1 more source

Ultrasonography Compared With Computed Tomography in Identifying Thoracic Aortic Aneurysms in Patients With Giant Cell Arteritis

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to evaluate the correlation and agreement between ultrasonography and computed tomography (CT) in measuring ascending aorta diameter in patients with giant cell arteritis (GCA) and to investigate the development of new ascending aortic aneurysms in patients with newly diagnosed GCA.
Anne C. Bull Haaversen, Lene K. Brekke, Tanaz A. Kermani, Øyvind Molberg, Andreas P. Diamantopoulos   +4 more
wiley   +1 more source