Results 61 to 70 of about 11,214 (233)

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

The Relationship between 8th Grade Students’ Opinions about Problem Solving, Beliefs about Mathematics, Learned Hopelessness and Academics Success

Gaziantep Üniversitesi Sosyal Bilimler Dergisi, 2017
Related literature emphasizes that affective factors are impactful on cognitive factors. For this reason, this study aims at revealing the relationship between problem solving,  which is one of metacognitive characteristics, beliefs about mathematics and
Gülay Agaç, Ercan MASAL
doaj   +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

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

The Interrelation Between Culturally Learned Helplessness and Economic Underdevelopment

Universal Journal of History and Culture
This article offers insights into the interrelationship between culturally learned helplessness and economic underdevelopment. It is argued that the concept of learned helplessness offers noteworthy insights into the nature of economic underdevelopment ...
Ferhat Öztutuş, Yunus Eroğlu
doaj   +1 more source

A Robust Adaptive One‐Sample‐Ahead Preview Super‐Twisting Sliding Mode Controller

International Journal of Adaptive Control and Signal Processing, EarlyView.
Block Diagram of the Robust Adaptive One‐Sample‐Ahead Preview Super‐Twisting Sliding Mode Controller. ABSTRACT This article introduces a discrete‐time robust adaptive one‐sample‐ahead preview super‐twisting sliding mode controller. A stability analysis of the controller by Lyapunov criteria is developed to demonstrate its robustness in handling both ...
Guilherme Vieira Hollweg, Paulo Jefferson Dias de Oliveira Evald, Shivam Chaturvedi, Hilton Abilio Gründling, Rodrigo Varella Tambara, Wencong Su   +5 more
wiley   +1 more source

Characterization of Defect Distribution in an Additively Manufactured AlSi10Mg as a Function of Processing Parameters and Correlations with Extreme Value Statistics

Advanced Engineering Materials, EarlyView.
Predicting extreme defects in additive manufacturing remains a key challenge limiting its structural reliability. This study proposes a statistical framework that integrates Extreme Value Theory with advanced process indicators to explore defect–process relationships and improve the estimation of critical defect sizes. The approach provides a basis for
Muhammad Muteeb Butt, Varma Kvvssn, Hossein Laieghi, Zia Uddin, Peyman Ansari, E. Kıvanç Sadak, Can Barış Toprak, Hüseyin Kızıl, Enrico Salvati   +8 more
wiley   +1 more source

Advancing Electronic Application of Coordination Solids: Enhancing Electron Transport and Device Integration via Surface‐Mounted MOFs (SURMOFs)

Advanced Functional Materials, EarlyView.
The layer‐by‐layer (LbL) assembly of coordination solids, enabled by the surface‐mounted metal‐organic framework (SURMOF) platform, is on the cusp of generating the organic counterpart of the epitaxy of inorganics. The programmable and sequential SURMOF protocol, optimized by machine learning (ML), is suited for accessing high‐quality thin films of ...
Zhengtao Xu, Christof Wöll, Stefan Bräse   +2 more
wiley   +1 more source

3D (Bio) Printing Combined Fiber Fabrication Methods for Tissue Engineering Applications: Possibilities and Limitations

Advanced Functional Materials, EarlyView.
Biofabrication aims at providing innovative technologies and tools for the fabrication of tissue‐like constructs for tissue engineering and regenerative medicine applications. By integrating multiple biofabrication technologies, such as 3D (bio) printing with fiber fabrication methods, it would be more realistic to reconstruct native tissue's ...
Waseem Kitana, Indra Apsite, Leonid Ionov   +2 more
wiley   +1 more source

NanoMOF‐Based Multilevel Anti‐Counterfeiting by a Combination of Visible and Invisible Photoluminescence and Conductivity

Advanced Functional Materials, EarlyView.
This study presents novel anti‐counterfeiting tags with multilevel security features that utilize additional disguise features. They combine luminescent nanosized Ln‐MOFs with conductive polymers to multifunctional mixed‐matrix membranes and powder composites. The materials exhibit visible/NIR emission and matrix‐based conductivity even as black bodies.
Moritz Maxeiner, Ruben Maile, Murat Cuvalli, Andreas Wolf, Ayisha Komal, Robert Oestreich, Christoph Janiak, Karl Mandel, Alexander Knebel, Klaus Müller‐Buschbaum   +9 more
wiley   +1 more source