Results 51 to 60 of about 2,252,762 (303)

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

Insights into the anomalous hardness of the tantalum carbides from dislocation mobility

Nature Communications
The tantalum carbides, TaC x , have been repeatedly shown to harden dramatically with some loss of carbon content, then soften with further decarburization.
Brennan R. Watkins, C. Haas Blacksher, Alyssa Stubbers, Gregory B. Thompson, Christopher R. Weinberger   +4 more
doaj   +1 more source

ANOMALOUS TRANSPORT:_FROM THEORIES ABOUT OSMOTIC PRESSURE TO A NEW APPROACH IN THE FRAMEWORK OF DYNAMICAL SYSTEMS [PDF]

, 2012
Osmosis is a fundamental physical process involved in many biological phenomena and is exploited in many thecnological applications. In the last decade, the interest for osmosis problems has grown with the ever-incresing development of nano-thecnologies ...
Salari, Lucia
core   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

A Machine Anomalous Sound Detection Method Using the lMS Spectrogram and ES-MobileNetV3 Network

Applied Sciences, 2023
Unsupervised anomalous sound detection by machines holds significant importance within the realm of industrial automation. Currently, the task of machine-based anomalous sound detection in complex industrial settings is faced with issues such as the ...
Mei Wang, Qingshan Mei, Xiyu Song, Xin Liu, Ruixiang Kan, Fangzhi Yao, Junhan Xiong, Hongbing Qiu   +7 more
doaj   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Anomalous diffusion induced by cristae geometry in the inner mitochondrial membrane [PDF]

, 2009
Diffusion of inner membrane proteins is a prerequisite for correct functionality of mitochondria. The complicated structure of tubular, vesicular or flat cristae and their small connections to the inner boundary membrane impose constraints on the ...
Jürgen Bereiter-Hahn, Sukhorukov Valerii M., Sukhorukov, Valerii M., Valerii M Sukhorukov, Bereiter-Hahn Jürgen, Bereiter-Hahn, Jürgen, Valerii M. Sukhorukov   +6 more
core   +2 more sources

Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen, Mark Paine, Soohyun Lee, Amir Fazlollahi, Baibin (Ben) Wang, John D. O'Sullivan, Peter J. Nestor   +6 more
wiley   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Remediating anomalous traffic behaviour in future networked environments. [PDF]

, 2010
The diverse characteristics of network anomalies and the different recovery approaches that can subsequently be employed to remediate their effects, constitute static defence mechanisms tuned at responding to specific abnormalities suboptimal for ...
David Hutchison, Angelos K. Marnerides, Pezaros, Dimitrios P., Jakeman, Matthew, Matthew Jakeman, Marnerides, Angelos K., Dimitrios P. Pezaros, Hutchison, David   +7 more
core   +3 more sources