Results 51 to 60 of about 48,340 (267)

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

Axial Compression Performance of L-Shaped Partially Encased Steel–Concrete Composite Stub Columns

Buildings
The L-shaped partially encased steel–concrete composite (PEC) stub column, composed of profile steel, concrete, and transverse links, tends to occupy less space than the rectangle-shaped PEC column when used as side or corner columns.
Yuansen Qi, Haochuan Zhu, Youwu Xu, Zhibin Xiao, Zhenfen Jin   +4 more
doaj   +1 more source

Study on triaxial test method and failure criterion of asphalt mixture

Journal of Traffic and Transportation Engineering (English ed. Online), 2015
Asphalt mixture is the most widely used pavement material all over the world. In China, more than 90% of service expressways are asphalt pavement. However, current asphalt pavement design method still has irrationality. Even though maximum tensile stress
Jianlong Zheng, Tuo Huang
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Numerical and experimental studies of compression-tested copper, mortar contact method

Dyna, 2017
Simulation of compression test of copper is made with the mortar contact method and assuming: axial symmetry, multiple point constraint of type plane, concentrate load and coulomb friction.
Gabriel Jesús Torrente Prato
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Experimental Performance Study on Axial Compressive Load-Bearing Capacity of Steel Slag Micropowder Ecotype UHPC of Short Columns Steel Pipe

Applied Sciences
In order to study the axial compression performance of steel pipe concrete short columns filled with steel slag micronized ultra-high-performance concrete (UHPC), this paper designs 27 steel pipe UHPC short columns for axial compression test and compares
Shangqi Guo, Xianyuan Tang, Chenzhuo Feng, Binbing He, Bai Yang   +4 more
doaj   +1 more source

Experimental Research and Theoretical Analysis on Mechanical Behaviour of Recycled Aggregate Concrete Filled Square Steel Short Tube under Eccentric Compression Load

Chemical Engineering Transactions, 2015
To study the mechanical performance of recycled aggregate concrete filled square steel short tube under eccentric compression load,15 specimens were designed and used in the monotonic loading test to obtainfailure modes, failure loading, and curves on ...
J.H. Zhang
doaj   +1 more source

Structural behavior of load-bearing sandwich wall panels with GFRP skin and a foam-web core

Science and Engineering of Composite Materials, 2018
An innovative load-bearing sandwich wall panel with glass fiber-reinforced polymer (GFRP) skins and a foam-GFRP web core (GSFW wall panels, where “GS” denotes GFRP skin and “FW” denotes foam-GFRP web core), which was manufactured using a vacuum-assisted ...
Wang Lu, Wu Zhimin, Liu Weiqing, Wan Li
doaj   +1 more source

Modelling thoracolumbar fractures in goat vertebrae based on axial compression force [PDF]

Scripta Medica
Background/Aim: A profound understanding of the biomechanics underlying thoracolumbar animal models has become important in spine research. Aim of this study was to analyse difference in thoracolumbar fractures based on height loss caused by axial ...
Febrian Firas, Airlangga Primadenny Ariesa, Hernugrahanto Kukuh Dwiputra   +2 more
doaj   +1 more source