Results 121 to 130 of about 393,349 (304)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Virtual experiments in computational magnetism: mag2exp

We have designed and implemented the Python package mag2exp, which enables researchers to perform a range of virtual experiments given a spatially resolved vector field for the magnetization, a typical result from computational methods to simulate ...
Hicken, Thomas, Lang, Martin, Suess, Dieter, Pathak, Swapneel, Zulfiqar, Kauser, Cortés-Ortuño, David, Loudon, James C, Holt, Samuel JR, Fangohr, Hans, Beg, Marijan   +9 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

Biosilicification mechanisms: An investigation using computational modeling and experimentation [PDF]

, 2016
Biomineralization is the deposition of minerals by living organisms. The question of how and by which mechanisms nature has developed biominerals can be addressed via several complementary approaches.
Javaheri, N.
core  

Communication with robots: Evidence from a web-based experiment on human-computer interaction

, 2006
Gieselmann P, Stenneken P. Communication with robots: Evidence from a web-based experiment on human-computer interaction. In: Association for Computational Linguistics, Institute of Electrical and Electronics Engineers, eds.
Gieselmann, P., Association for Computational Linguistics, Stenneken, Prisca, Institute of Electrical and Electronics Engineers   +3 more
core   +1 more source

A Serverless Tool for Platform Agnostic Computational Experiment Management. [PDF]

Front Neuroinform, 2019
Kiar G, Brown ST, Glatard T, Evans AC.
europepmc   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

A digital humanities experiment

, 2020
[Extract:] What if the revelatory potential of the digital humanities rested less on computational power and more on the breadth of perspectives that a website might be designed to hold and gently jostle together?
Deger, Jennifer
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Experimental Evaluation of 100Cr6 Steel Microindented Surfaces Under Lubricated Nonconformal Point Contacts

Advanced Engineering Materials, EarlyView.
The tribological behavior of 100Cr6 steel spheres textured via Vickers microindentation is evaluated under lubricated sliding by varying both dimple size and density. Fine and dense textures significantly reduce friction across all lubrication regimes, while large dimples increase it.
Farideh Davoodi, Pasquale Guglielmi, Gianfranco Palumbo, Giuseppe Carbone   +3 more
wiley   +1 more source