Results 41 to 50 of about 48,227 (268)

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

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

Performance of externally CFRP confined RC columns with changes in thickness of the wrap, slenderness of the column and shape of the section

MATEC Web of Conferences, 2012
The present study deals with the analysis of experimental results, in terms of load carrying capacity and strains, obtained from tests on reinforced concrete (RC) columns, strengthened with external carbon fiber reinforced polymer (CFRP) sheets.
Gahmous M., Benzaid R., Chikh N., Mesbah H.   +3 more
doaj   +1 more source

The Behavior of Axially Compression Loaded Barrette and Bored Piles with Model Tests

Journal of Civil Engineering and Urbanism
Deep foundations could be preferred instead of shallow foundations in the event that the loads coming from the structure are excessive and the soil state is inconvenient. Rectangular shaped barrette piles are the one of them. In this study, firstly a series of laboratory tests have been conducted using three different sizes of barrette and bored piles
Ömer YEŞİLTEPE, Merve ERGİNER, Murat ÖRNEK   +2 more
openaire   +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

Performance-Based Multi-Objective Optimization of Four-Limb CFST Lattice Columns

Buildings
In this paper, the low-cycle reciprocating load test was carried out on four-limb concrete-filled steel tubular (CFST) lattice columns with different slenderness ratios and axial compression ratios, and the seismic performance was studied.
Junjie He, Zhi Huang, Juan Chen, Wangbao Zhou, Tao Huang, Xin Kang, Yohchia Frank Chen   +6 more
doaj   +1 more source

Study on the Axial Compression Postbuckling Similitude Model of the Stiffened Cylindrical Shell with Dimple Imperfections

Advances in Civil Engineering, 2021
The body of the new-type dry gas holder is a large stiffened cylindrical shell. Limited by the test site and economic conditions, the buckling characteristics of such holders are generally studied through scale model experiments.
Jiawei Ding, Xinkui Xing, Wei Yu, Wanxu Zhu   +3 more
doaj   +1 more source

AXIAL COMPRESSION TESTING OF CARBON FIBERS

, 2019
In this study, the axial compression strength of carbon fiber multifilament has been determined on a series PAN-based carbon fibers using bundle compression test similar to the compression measurement of unidirectional laminated composites. This test allows for rapid response and utilizes smaller amounts of material for initial screening testing.
openaire   +3 more sources

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 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