Results 91 to 100 of about 1,644,928 (302)

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

Distance protection of EHV long transmission lines considering compensation degree of shunt reactor

Global Energy Interconnection, 2019
This study investigated the feasibility of distance protection in extra-high voltage (EHV) networks. In long-distance transmission lines, the distributed parameter characteristic of the EHV network is obvious.
Wang Jiang, Jiping Lu, Hongji Xiang, Xing Ma, Hui Fang   +4 more
doaj   +1 more source

Competition and Economic Growth: an Empirical Analysis for a Panel of 20 OECD Countries [PDF]

This paper aims at analyzing, from an empirical point of view, the relationship between product market competition and economic growth, using the data on multi-factor productivity for a panel of 20 OECD countries over a period 1995-2005, and considering ...
Scopelliti, Alessandro Diego
core   +1 more source

MYCOPHENOLATE MOFETIL TREATMENT REDUCES THE RISK OF TREATMENT ESCALATION DUE TO VASCULAR COMPLICATIONS IN LIMITED CUTANEOUS SYSTEMIC SCLEROSIS: EMULATION OF A TARGET TRIAL FROM ITALIAN RHEUMATOLOGY SOCIETY SPRING REGISTRY

Arthritis Care &Research, Accepted Article.
Objective Mycophenolate Mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon due to the lower fibrotic burden and the predominance of the vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis, Gerlando Natalello, Rossella De Angelis, Lucrezia Verardi, Dilia Giuggioli, Gianluigi Bajocchi, Lorenzo Dagna, Silvia Bellando‐Randone, Giovanni Zanframundo, Rosario Foti, Fabio Cacciapaglia, Giovanna Cuomo, Alarico Ariani, Edoardo Rosato, Gemma Lepri, Francesco Girelli, Valeria Riccieri, Elisabetta Zanatta, Ilaria Cavazzana, Francesca Ingegnoli, Maria De Santis, Giuseppe Murdaca, Giuseppina Abignano, Giorgio Pettiti, Alessandra Della Rossa, Maurizio Caminiti, Annamaria Iuliano, Giovanni Ciano, Lorenzo Beretta, Gianluca Bagnato, Ennio Lubrano, Maria Ilenia De Andres, Alessandro Giollo, Cosimo Bruni, Martina Orlandi, Marco Fornaro, Marta Saracco, Cecilia Agnes, Pier Giacomo Cerasuolo, Gabriella Alonzi, Edoardo Cipolletta, Federica Lumetti, Amelia Spinella, Luca Magnani, Corrado Campochiaro, Giacomo De Luca, Veronica Codullo, Elisa Visalli, Carlo Iandoli, Antonietta Gigante, Greta Pellegrino, Erika Pigatto, Maria‐Grazia Lazzaroni, Franco Franceschini, Elena Generali, Gianna Mennillo, Simone Barsotti, Giuseppa Pagano Mariano, Federica Furini, Licia Vultaggio, Simone Parisi, Clara Lisa Peroni, Gerolamo Bianchi, Enrico Fusaro, Gian Domenico Sebastiani, Marcello Govoni, Salvatore D'Angelo, Franco Cozzi, Fabrizio Conti, Serena Guiducci, Andrea Doria, Carlo Salvarani, Florenzo Iannone, Maria Antonietta D'Agostino, Clodoveo Ferri, Marco Matucci Cerinic, Silvia Laura Bosello, on behalf of SPRING collaborators   +77 more
wiley   +1 more source

Cumulative Social Disadvantage and Disease Activity in Juvenile Idiopathic Arthritis: A Childhood Arthritis and Rheumatology Research Alliance Registry Study

Arthritis Care &Research, Accepted Article.
Background Social determinants of health (SDOH) contribute to JIA disparities, but most studies have assessed SDOH independently rather than cumulatively across individual, family, and neighborhood levels. Using a socioecological framework, we investigated the relationship between cumulative social disadvantage, neighborhood disadvantage, and JIA ...
William Daniel Soulsby, John Boscardin, Andrea Knight, Daniel B. Horton, Karine Toupin‐April, Emily von Scheven, The CARRA Registry Investigators and for the CARRA Health Equity Work Group   +6 more
wiley   +1 more source

Study of Coordination on Protection Relay in High Voltage Transmission 150 kV (Payakumbuh – Koto Padang, West Sumatra)

MATEC Web of Conferences, 2018
The disturbance of the high voltage transmission can be caused by a short circuit, overload, lightning surge, and other natural disturbances. That disturbance can lead to disruption of the distribution of electricity and damage to the electric power ...
Zulkarnaini Zulkarnaini, Rizki Muhammad
doaj   +1 more source

Rent-seeking measurement in coal mining by means of labour unrest: an application of the distance function [PDF]

We propose a method based on the distance function to empirically estimate the social cost arising from rent seeking behaviour in declining industries.
Baños Pino, Jose, Del Rosal, Ignacio, Rodriguez-Alvarez, Ana   +2 more
core   +1 more source

Consumer protection with regard to distance contracts after the transposition of the Consumer Rights Directive in Belgium and France [PDF]

, 2013
A
Steennot, Reinhard
core   +1 more source

Enhancing Corrosion Resistance and Mechanical Strength of 3D‐Printed Iron Polylactic Acid for Marine Applications via Laser Surface Texturing

Advanced Engineering Materials, EarlyView.
Laser surface texturing significantly improves the corrosion resistance and mechanical strength of 3D‐printed iron polylactic acid (Ir‐PLA) for marine applications. Optimal laser parameters reduce corrosion by 80% and enhance tensile strength by 25% and ductility by 15%.
Mohammad Rezayat, Mojtaba Karamimoghadam, Mohammadreza Lalegani Dezaki, Ali Zolfagharian, Giuseppe Casalino, Antonio Mateo, Mahdi Bodaghi   +6 more
wiley   +1 more source

Experimental Study of Distance Protection Under High IBR Penetration—Detailed Analysis of Protection Misoperations During Faults

Energies
Modern power networks contain an increasing amount of renewable energy resources that are connected to the grid via inverters (Inverter-Based Resources, IBR).
Frédérick Munger, Stephan Brettschneider, Issouf Fofana   +2 more
doaj   +1 more source