Results 101 to 110 of about 623,570 (296)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Electron paramagnetic resonance study of ErSc2NC80

, 2010
We present an electron paramagnetic resonance (EPR) study of ErSc2N@C80 fullerene in which there are two Er3+ sites corresponding to two different configurations of the ErSc2N cluster inside the C80 cage.
Ardavan, Arzhang, Briggs, G. Andrew D., Dantelle, Geraldine, Dinse, Klaus-Peter, Morton, John J. L., Porfyrakis, Kyriakos, Rahman, Rizvi, Tiwari, Archana   +7 more
core  

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

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

Electrochemical Evaluation of Compressed Selective Laser Melted AlSi7Mg and AlSi10Mg Alloys in Chloride Environment

Advanced Engineering Materials, EarlyView.
The corrosion performance of AlSi7Mg and AlSi10Mg alloys produced through selective laser melting (SLM) was examined under compressive stress in a chloride environment. Electrochemical analyses, including open‐circuit potential (OCP), potentiodynamic polarization (CPP), and electrochemical impedance spectroscopy (EIS), were complemented by scanning ...
Femi John Akinfolarin, Samson Dare Oguntuyi, Peter Apata Olubambi   +2 more
wiley   +1 more source

Innovative Processing of Compacted Waste Aluminum Alloy Powders via Controlled Remelting and Solidification

Advanced Engineering Materials, EarlyView.
This study demonstrates an efficient recycling route for out‐of‐spec AlSi10Mg atomized powders through compaction and arc remelting followed by suction casting. By correlating compaction load, cooling rate, and resulting microstructure, we show that intermediate pressures (50–80 kN) and rapid cooling refine dendrites, reduce porosity, and enhance ...
Mila Christy de Oliveira, Marcella Gaute Cavalcante Xavier, Abdoul‐Aziz Bogno, Piter Gargarella, José Eduardo Spinelli   +4 more
wiley   +1 more source

A Thermodynamic 3D Model for the Simulation of Diffusion‐Controlled Alloying Processes in Heterogeneous Material Structures

Advanced Engineering Materials, EarlyView.
A numerical model resulting from irreversible thermodynamics for describing transport processes is introduced, focusing on thermodynamic activity gradients as the actual driving force for diffusion. Implemented in CUDA C++ and using CalPhaD methods for determining the necessary activity data, the model accurately simulates interdiffusion in aluminum ...
Ulrich Holländer, Leonhard Holländer, André Langohr, Hans Jürgen Maier   +3 more
wiley   +1 more source

The complete mitochondrial genome of Cynoglossus joyneri and its novel rearrangement

Mitochondrial DNA. Part B. Resources, 2017
The complete mitochondrial genome of Cynoglossus joyneri was determined. The length of the C. joyneri complete mitochondrial DNA sequence is 16,428 bp.
Zhang Bo, Jia Lei, Liu Kefeng, Sun Jinsheng   +3 more
doaj   +1 more source

Microstructural Evolution and Vacancy Defect Formation in Mn–Mo–Ni RPV Steel Under Low Cycle Fatigue: Insights From EBSD and PALS

Advanced Engineering Materials, EarlyView.
Low‐cycle fatigue damage in Mn–Mo–Ni reactor pressure vessel steel is examined using a combined electron backscatter diffraction and positron annihilation lifetime spectroscopy approach. The study correlates texture evolution, dislocation substructure development, and vacancy‐type defect formation across uniform, necked, and fracture regions, providing
Apu Sarkar, Dhanadeep Dutta, G. Bharat Reddy   +2 more
wiley   +1 more source

Tailored Hierarchical Porous Copper Architectures via Three Dimensional Printing and Pressure‐less Sintering for Next‐Generation Lithium‐Metal Batteries

Advanced Engineering Materials, EarlyView.
A hierarchical porous copper current collector is fabricated via three‐dimensional printing combined with pressureless sintering to stabilize lithium metal anodes. The interconnected architecture lowers local current density, guides uniform Li deposition within pores, and suppresses dendrite growth.
Alok Kumar Mishra, Mukul Shukla
wiley   +1 more source