Results 121 to 130 of about 649 (195)

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

Disclosure of Environmental Items: A Study of Metal Mining Companies Registered at BM & FBOVESPA

, 2016
A evidenciação dos itens ambientais pode contribuir no processo de preservação e proteção ambiental, no intuito de demonstrar todas as ações que são desenvolvidas nas questões ambientais com um detalhamento dos valores entre a empresa e o meio ambiente.
Batista, Kelly Rodrigues, Melo, Janaina Ferreira Marques de, Carvalho, José Ribamar Marques de   +2 more
openaire   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

IMPAIRMENT TEST OF THE ASSETS: A STUDY ON DISCLOSURE IN COMPANIES OF DIFFERENT SEGMENTS OF THE BM&FBOVESPA

, 2019
The process of convergence of Brazilian accounting practices with international accounting standards brought changes in various aspects of accounting. Among these is the obligation to carry out periodic impairment test of assets. This study aimed to verify that publicly traded companies listed on BM&FBOVESPA at different levels of corporate ...
Machado, Larissa Mendes, Lorandi, Joisse Antonio   +1 more
openaire   +1 more source

Accountant fees in relation and fees no audit with enterprise economic performance in listed BM & FBOVESPA

Contabilidad y Negocios: Revista del Departamento Académico de Ciencias Administrativas, 2015
The study aims to investigate the relationship between audit fees and non-audit fees to the economic performance of companies listed on BM & FBOVESPA. Therefore, we carried out a descriptive, document and quantitative research through the canonical correlation through StatGraphics® statistical software for the period 2010 to 2013.
Mara Vogt, Maurício Leite, Paulo Roberto da Cunha, Vanderlei Dos Santos   +3 more
openaire   +1 more source

Efeito da troca da firma de auditoria no gerenciamento de resultados das companhias abertas brasileiras

Contabilidad y Negocios: Revista del Departamento Académico de Ciencias Administrativas, 2019
O objetivo do presente estudo consiste em verificar o efeito da troca da firma de auditoria no nível de gerenciamento de resultados das companhias brasileiras listadas na BM&FBovespa.
Paulo Roberto da Cunha, Maurício Leite, Vânia Regina Moras   +2 more
doaj  

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source

ANALYSIS OF THE 2012 CRISIS IN THE FINANCIAL PERFORMANCE OF THE ELECTRICITY INDUSTRY LISTED IN BM & FBOVESPA

, 2016
O estudo objetivou analisar o impacto da crise de 2012 no desempenho econômico-financeiro das indústrias de energia elétrica listadas na BM&FBovespa. Para isto, realizou-se um estudo descritivo, com abordagem quantitativa nas 40 indústrias do setor de energia elétrica listadas na BM&FBovespa.
openaire   +1 more source

SOCIOENVIRONMENTAL DISCLOSURE, CORPORATE REPUTATION AND VALUE CREATION IN FIRMS TRADED ON BM&FBOVESPA

, 2017
El estudio tiene por objeto analizar la relación entre el disclosure socioambiental, la reputación corporativa y la creación de valor en las empresas listadas en la BM&FBovespa. La investigación reúne una muestra de 305 empresas, seleccionadas a partir de siete rankings de reputación.
Lopes, Artur Corrêa, De Luca, Márcia Martins Mendes, Góis, Alan Diógenes, Vasconcelos, Alessandra Carvalho de   +3 more
openaire   +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