Results 111 to 120 of about 44,636 (300)

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

Quantifying Uncertainty in Spectral Leaf Chlorophyll Content Retrieval: A Propagation Analysis

IEEE Journal of Selected Topics in Applied Earth Observations and Remote Sensing
Reliable estimation of leaf chlorophyll content (LCC) from spectral measurements requires explicit quantification of measurement and model uncertainties.
Mike Werfeli, Dessislava Ganeva, Jose Luis Garcia-Soria, Laura Mihai, Lechezar Filchev, Eugenia Roumenina, Jochem Verrelst, Andreas Hueni   +7 more
doaj   +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

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Amplitude uncertainties everywhere all at once

SciPost Physics
Ultra-fast, precise, and controlled amplitude surrogates are essential for future LHC event generation. First, we investigate the noise reduction and biases of network ensembles and outline a new method to learn well-calibrated systematic uncertainties ...
Henning Bahl, Nina Elmer, Tilman Plehn, Ramon Winterhalder
doaj   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source

Uncertainty Quantification of Reduced Models [PDF]

, 2020
Detailed reaction models such as detailed soot models, describing complex phenomena in combustion are typically computationally intensive. Reduced reaction models derived from a detailed, full-size reaction model are, thus, necessary in combustion ...
Liu, Zhenyuan
core  

Vibration-based model updating: Reduction and quantification of uncertainties

, 2011
Numerical models and their combination with advanced solution strategies are standard tools for many engineering disciplines to design or redesign structures and to optimize designs with the purpose to improve specific requirements. As the successful application of numerical models depends on their suitability to represent the behavior related to the ...
openaire   +1 more source

ObjectTransforms for Uncertainty Quantification and Reduction in Vision-Based Perception for Autonomous Vehicles

CoRR
Reliable perception is fundamental for safety critical decision making in autonomous driving. Yet, vision based object detector neural networks remain vulnerable to uncertainty arising from issues such as data bias and distributional shifts. In this paper, we introduce ObjectTransforms, a technique for quantifying and reducing uncertainty in vision ...
Sahu, Nishad, Sural, Shounak, Patil, Aditya Satish, Ragunathan, Rajkumar   +4 more
openaire   +2 more sources

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source