Results 41 to 50 of about 1,458,458 (304)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +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

Bien-être en Île-de-France : derrière une hausse générale, des disparités territoriales croissantes [PDF]

, 2011
National audienceLa fracture socio-spatiale s'est-elle aggravée ces dernières années en Île-de-France ? À partir d'une méthode originale inspirée des travaux d'Amartya Sen, mesurant la distribution du bien-être en Île-de-France entre 1999 et 2006, Lise ...
Bourdeau-Lepage, Lise, Tovar, Elisabeth
core   +1 more source

Riparian Corridors Encroachment and Flood Risk Assessment in Ile-Ife: A GIS Perspective [PDF]

, 2015
The Publisher's final version can be found by following the DOI link.Recent development and expansion of paved surfaces as a result of urban growth has resulted in encroachment of riparian corridors, the immediate effect of which poses flood risk to ...
Alaigba, Deborah B., Orewole, Maruf O., Oviasu, Osaretin   +2 more
core   +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

GENETIC FACTORS OF CLIMATE IN THE CRIŞUL NEGRU HYDROGRAPHIC BASIN [PDF]

Analele Universităţii din Oradea: Seria Geografie, 2013
This paper summarizes the genetic factors that determine the climate from the Crişul Negru hydrographic basin, namely the solar radiation, the movement of air masses and the active subjacent surface.
Viorel GALIŞ, Marius ILE
doaj  

Smart, Bio‐Inspired Polymers and Bio‐Based Molecules Modified by Zwitterionic Motifs to Design Next‐Generation Materials for Medical Applications

Advanced Functional Materials, EarlyView.
Bio‐based and (semi‐)synthetic zwitterion‐modified novel materials and fully synthetic next‐generation alternatives show the importance of material design for different biomedical applications. The zwitterionic character affects the physiochemical behavior of the material and deepens the understanding of chemical interaction mechanisms within the ...
Theresa M. Lutz, Jonas De Breuck, Sahar Salehi, Meike N. Leiske   +3 more
wiley   +1 more source

Pedagogía institucionista y educación social en Castilla y León

Historia de la Educación, 2013
El presente trabajo de investigación historiográfica sobre el desarrollo e influencia del institutucionismo pedagógico en Castilla y León ha pretendido hacer hincapié en dos coordenadas generales.
Leoncio VEGA GIL
doaj  

Mediating Effect of Work Self-Efficacy on the Relationship Between Psychosocial Safety Climate and Workplace Safety Behaviors Among Bank Employees After Covid-19 Lockdown

Central European Management Journal, 2021
Purpose: Studies find that psychosocial safety climate is positively associated with workplace safety behaviors. However, the mechanism through which psychosocial safety climate exerts its effect needs further investigation.
Akanni Abimbola A., Ajila Chris O., Omisile Idowu O., Ndubueze Kelechi N.   +3 more
doaj   +1 more source

Design approaches in technology enhanced learning [PDF]

, 2006
Design is a critical to the successful development of any interactive learning environment (ILE). Moreover, in technology enhanced learning (TEL), the design process requires input from many diverse areas of expertise.
Alexander C., Alexander C., Alexander C., Anthony D. L., Avgeriou P., Bailey C., Balacheff N., Borchers J., Brouns F., Collins A., Danielsson K., Dearden A., Druin A., Eckstein J., Gamma E., Hernández-Leo D., Issroff K., Kafai Y. B., Kali Y., Linn M. C., Mor Y., Niall Winters, Noss R., Simon H. A., Yishay Mor   +24 more
core   +7 more sources