Results 81 to 90 of about 3,708,659 (279)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A Social Return on Investment Analysis of Improving the Management of Chronic Obstructive Pulmonary Disease Within the Spanish National Healthcare System

International Journal of COPD, 2022
María Merino,1 Teresa Martín Lorenzo,1 Paulina Maravilla-Herrera,1 Julio Ancochea,2– 4 José Tomás Gómez Sáenz,5 Nicole Hass,6 Jesús Molina,7 Germán Peces-Barba,8 Marta Trapero-Bertran,9 Juan Antonio Trigueros Carrero,10 Álvaro Hidalgo-Vega11 1Health ...
Merino M, Martín Lorenzo T, Maravilla-Herrera P, Ancochea J, Gómez Sáenz JT, Hass N, Molina J, Peces-Barba G, Trapero-Bertran M, Trigueros Carrero JA, Hidalgo-Vega Á   +10 more
doaj  

The complex networks of earth minerals and chemical elements [PDF]

, 2008
We study the large-scale organization of the mineral-mineral (MMN) and element-element (EEN) complex networks by analyzing their topological structures.
Estrada, Ernesto, Ramon y Cajal program Spain (Funder)   +1 more
core  

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Work Organisation and Innovation - Case Study: Kellogg, Spain [PDF]

, 2013
[Excerpt] Kellogg Spain, a subsidiary of the multinational with the same name, started activity over 30 years ago. Currently the company has around 130 employees who are responsible for the market in the Iberia region (Spain and Portugal).
Ortigão, Manuel
core   +1 more source

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

Ideological Perspectives on Spanish Architecture in International Journals (1950-1986)

Histories of Postwar Architecture
At the end of the 1930s’, Spain suffered a civil war. Its consequence is the establishment of a new political order: General Franco’s dictatorship, that would kept its power for almost forty years.
Pablo Arza Garaloces
doaj   +1 more source

Industrial engineering in Spain, the challenge of a new liberal profession in the nineteenth century [PDF]

, 2014
Industrial engineering was established in Spain in 1850. Despite the initial difficulties, the profession found its role in the process of the industrialization of Spain.
Roca Rosell, Antoni Maria Claret
core   +1 more source

Cost-effectiveness of eplerenone in patients with systolic heart failure and mild symptoms [PDF]

, 2014
Aim In the Eplerenone in Mild Patients Hospitalization and Survival Study in Heart Failure (EMPHASIS-HF), aldosterone blockade with eplerenone decreased mortality and hospitalisation in patients with mild symptoms (New York Heart Association class II ...
Akehurst, R., Cowie, M.R., Krum, H., Lee, D., McMurray, J.J.V., Pitt, B., van Veldhuisen, D.J., Vincent, J., Wilson, K., Zannad, F.   +9 more
core   +3 more sources

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