Results 161 to 170 of about 5,733,113 (297)

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

Design and Synthesis of 3‑Amino-4-azidoethoxyfurazan: A Supramolecular Energetic Material with Insensitivity Properties. [PDF]

JACS Au
Wu Y, Liu Y, Liang K, He X, Liu Y, Xiao C, Wang Y.   +6 more
europepmc   +1 more source

Manganese molybdate nanoflakes on silicon microchannel plates as novel nano energetic material. [PDF]

R Soc Open Sci, 2017
Zhang C, Wu D, Shi L, Zhu Y, Xiong D, Xu S, Huang R, Qi R, Zhang W, Wang L, Chu PK.   +10 more
europepmc   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

Two-Dimensional Porous Beryllium Trinitride Monolayer as Multifunctional Energetic Material. [PDF]

Nanomaterials (Basel)
Jiang J, Hu Q, Wang W, Guo H.
europepmc   +1 more source

Preparation of a superfine RDX/Al composite as an energetic material by mechanical ball-milling method and the study of its thermal properties. [PDF]

RSC Adv, 2018
Xiao L, Zhang Y, Wang X, Hao G, Liu J, Ke X, Chen T, Jiang W.   +7 more
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Synthesis, crystal structure and properties of 3-picrylamino-1,2,4-triazole-nitric acid self-assembled energetic material. [PDF]

RSC Adv
Zhang X, Zhang Q, Zhao Y, Li G, Jiang T, Suo Z, Sun S, Su L.   +7 more
europepmc   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Monocyclic Bis(<i>N</i>‑nitramine) Triazole: A High-Density Energetic Material with Exceptionally Weak N-N Bond. [PDF]

JACS Au
Chen C, Zhang Y, Niu M, Tang M, Zeng Z, Liu Y, Huang W, Xiao C, Cheng G, Tang Y.   +9 more
europepmc   +1 more source