Results 161 to 170 of about 14,667,599 (290)

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

Study on compressive properties of porous fluorite lattice metamaterials

Jixie qiangdu
Plate lattice metamaterials are an emerging class of multifunctional metamaterials characterized by exceptional physical and mechanical properties. Specimens of fluorite structure plate lattice metamaterials with varying cell lengths, wall thicknesses ...
ZHANG Lichen, LI Longhao, WU Dongquan, LI Yupeng, WANG Hejingwen, ZHOU Bochen, WANG Mingkaiqi, LI Xinzhe   +7 more
doaj  

Surface mechanical properties as a potential upstream contributor to exercise-associated muscle cramp susceptibility: a hypothesis linking athlete-surface interaction, neuromuscular fatigue, and altered neuromuscular control. [PDF]

Front Sports Act Living
Hales M, Johnson JD.
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

Recent Advances in High-Performance Bioinspired Sustainable Materials for Automotive Applications. [PDF]

Materials (Basel)
Kumari K, Pradhan S, Mishra M, Barua A, Samantra C, Rout T, Priyadarshini M.   +6 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

Flexoelectricity and ion transport synergy for high efficient energy conversion. [PDF]

Sci Adv
Yan D, Shao LH, Duan H, Guo W.
europepmc   +1 more source

Drillability and Mechanical Specific Energy analysis on the example of drilling in the Pomeranian Basin [PDF]

AGH Drilling, Oil, Gas, 2015
Rafał Wiśniowski, Dariusz Knez, Łukasz Hytroś   +2 more
openaire   +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

Graphene-nanodiamond membranes for atomic-impact sensing: design and fluorescence readout limits. [PDF]

Nanoscale Adv
Fiedler J, Eder SD, Zalieckas J.
europepmc   +1 more source