Results 241 to 250 of about 1,410,376 (312)

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

Comparative analysis of body parameters for fracture and post-healing patient using a non-invasive bioimpedance device. [PDF]

Sci Rep
Brajesh K, Aldobali M, Pal K, Khan M.
europepmc   +1 more source

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 more
wiley   +1 more source

Genes, gut microbiome, and lungs: Untangling the web of Idiopathic Pulmonary Fibrosis

Hernandez-Beeftink T, Allen RJ, Leavy OC, Cuthbertson L, Molyneaux PL, Wain LV.   +5 more
europepmc   +1 more source

Itauba Wood Fiber (<i>Mezilaurus lindaviana</i>) and Itauba Wooden Board: A Survey on the Physical, Chemical, Thermal, and Mechanical Properties. [PDF]

ACS Omega
Ornaghi Júnior HL, Poletto M, de Prá Andrade M, Maciel Monticeli F, Hillig E, Blanchet P, Sadaoui A, Zattera AJ.   +7 more
europepmc   +1 more source

Simulation-Based Evaluation of a Large Language Model-Enabled Clinical Decision Support Platform in Oncology. [PDF]

JCO Clin Cancer Inform
Lajmi N, Patel M, Obery G, Dorge A, Sharma A, Halligan J, Lo E.   +6 more
europepmc   +1 more source

From Agricultural Residues to Sustainable Boards: Complex Network Analysis of Binderless Composites. [PDF]

Polymers (Basel)
Rossi L, Miccio LA, Ciannamea EM, Stefani PM.   +3 more
europepmc   +1 more source

Computed tomography-based muscle and fat composition in a Dutch population: a cross-sectional study. [PDF]

Insights Imaging
Sweet AAR, Kobes T, Houwert RM, Haitjema S, Leenen LPH, Moeskops P, de Jong PA, van Baal MCPM, Veldhuis WB.   +8 more
europepmc   +1 more source