Results 111 to 120 of about 5,776,434 (207)

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

Results of the determination of prevalence and intensities of included occlusion defects chewing localization, complicated convergences of the teeth their limiting

Эндодонтия Today
AIM. Analyses the factors of prevalence and intensities of included occlusion defects chewing-oriented of localizations, complicated convergences teeth their limiting.MATERIALS AND METHODS.
G. G. Ashurov, D. A. Zaripov, S. M. Karimov   +2 more
doaj   +1 more source

The Two-Dimensional, Rectangular, Guillotineable-Layout Cutting Problem with a Single Defect [PDF]

In this paper, a two-dimensional cutting problem is considered in which a single plate (large object) has to be cut down into a set of small items of maximal value.
Marcos N. Arenales, Andrèa C. G. Vianna, Vera Neidlein, Gerhard Wäscher   +3 more
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MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Physics-guided Explainable Surrogate Framework for Topology-Aware Local Strain Prediction in Defect-Rich Additively Manufactured Materials

Advances in Mechanical and Materials Engineering
Predicting defect-driven strain localization in additively manufactured materials remains challenging because experimental datasets are often limited, expensive to generate, and characterized by complex defect topologies.
Aswin Karkadakattil
doaj   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu, Changgeng Song, Dianwei Wu, Xiaoqian Niu, Jianmin Hao, Lijuan Liu, Xiaogang Kang, Wen Jiang   +7 more
wiley   +1 more source

Defect and fault tolerance techniques for nano-electronics

, 2011
Nanotechnology-based devices are believed to be the future possible alternative to CMOS-based devices. It is predicted that the high integration density offered by emerging nanotechnologies will be accompanied by high manufacturing defect rates and high ...
Melouki, Aissa
core   +1 more source

Complex sine-Gordon theory: solitons, defects and boundaries [PDF]

, 2008
This thesis presents research into the properties and features of the complex sine- Gordon theory. The CSG theory is a dimensional integrable held theory that admits soliton solutions which carry a Noether charge due to the U(I) invariance of the theory.
Umpleby, James
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