Results 71 to 80 of about 243,593 (263)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

RST-YOLOv8: An Improved Chip Surface Defect Detection Model Based on YOLOv8

Sensors
Surface defect detection in chips is crucial for ensuring product quality and reliability. This paper addresses the challenge of low identification accuracy in chip surface defect detection, which arises from the similarity of defect characteristics ...
Wenjie Tang, Yangjun Deng, Xu Luo
doaj   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

FDC-YOLO: A Blur-Resilient Lightweight Network for Engine Blade Defect Detection

Algorithms
The synergy between continuum robots and visual inspection technology provides an efficient automated solution for aero-engine blade defect detection. However, flexible end-effector instability and complex internal illumination conditions cause defect ...
Xinyue Xu, Fei Li, Lanhui Xiong, Chenyu He, Haijun Peng, Yiwen Zhao, Guoli Song   +6 more
doaj   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Duplicate Defect Detection

, 2019
Duplicate Defect Detection Tomi Prifti Discovering and fixing faults is an unavoidable process in Software Engineering. It is always a good practice to document and organize fault reports. This facilitates the effectiveness of development and maintenance process.
openaire   +2 more sources

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Investigation on road underground defect classification and localization based on ground penetrating radar and Swin transformer

International Journal for Simulation and Multidisciplinary Design Optimization
In response to the low detection efficiency and accuracy of traditional manual methods for detecting road underground defects, this paper proposes an intelligent detection method based on ground penetrating radar (GPR).
An Jinke, Yang Li, Hao Zhongyu, Chen Gongfa, Li Longjian   +4 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

TGDNet: A Multi-Scale Feature Fusion Defect Detection Method for Transparent Industrial Headlight Glass

Sensors
In industrial production, defect detection for automotive headlight lenses is an essential yet challenging task. Transparent glass defect detection faces several difficulties, including a wide variety of defect shapes and sizes, as well as the challenge ...
Zefan Zhang, Jin Tang
doaj   +1 more source