Results 51 to 60 of about 463,199 (265)

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

Unsteadiness in shock-wave/boundary layer interactions [PDF]

, 2010
The need for better understanding of the low-frequency unsteadiness observed in shockwave/turbulent boundary layer interactions has been driving research in this area forseveral decades.
Touber, Emile
core  

Implications of molecular interactions for protein structure, function and design [PDF]

, 2005
Protein structures are kept in a delicate balance of stability by the interactions of the amino acid residues among themselves, the solvent and other molecules. On one hand they must be stable enough not to unfold, on the other hand they must be mobile
Meier, Markus
core   +1 more source

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

HAMS: A Frequency-Domain Preprocessor for Wave-Structure Interactions—Theory, Development, and Application

Journal of Marine Science and Engineering, 2019
This paper presents the theoretical background, the numerical implementation, and the applications of a new software that has been developed in recent years for the analysis of wave-structure interactions.
Yingyi Liu
doaj   +1 more source

Design considerations for a hybrid wind-wave platform under energy-maximising control [PDF]

, 2023
The environmental impact of emissions of fossil fuels and their rising prices, together with countries' commitment to mitigate the effect of the alarming and rapid climate changes, have been a crucial thrust to investigate new solutions to have an energy
John Ringwood, Ringwood, John, Nicolás Faedo, Pasta, Edoardo, Paduano, Bruno, Peña-Sanchez, Yerai, Celesti, Maria Luisa, Faedo, Nicolas Ezequiel, Maria Luisa Celesti, Yerai Peña-Sanchez, Edoardo Pasta, Bruno Paduano, Faedo, Nicolás   +12 more
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Estimation of the Motion Response of a Large Ocean Buoy in the South China Sea

Journal of Marine Science and Engineering
Ocean data buoys are among the most effective tools for monitoring marine environments. However, their measurement accuracy is affected by the motion of the buoys, making the hydrodynamic characteristics of buoys a critical issue.
Yunzhou Li, Chuankai Zhao, Penglin Jing, Bangqi Chen, Guanghua He, Zhigang Zhang, Jiming Zhang, Min Li, Juncheng Wang   +8 more
doaj   +1 more source

An integrated model of wave-seabed-structure interactions [PDF]

, 2010
The phenomenon of wave-seabed-structure interactions have occurred in the marine environment with a coastal permeable (or partially permeable) structure, which has attracted great attention from coastal engineers involved in the design of marine ...
Liu, Phillip L.-F., Dong-sheng Jeng, Ping Dong, Wang, Bo, Jeng, Dong-Sheng, Dong, Ping, Zhang, Ji-sheng, Bo Wang, Philip L. -F. Liu, L. ⿿F. Liu, Philip, Liu, Philip L-F, Ji-sheng Zhang   +11 more
core   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source