Results 141 to 150 of about 1,261,740 (256)

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

Screw Versus Suture Bridge Fixation for Medial Femoral Condyle Osteochondritis Dissecans Demonstrate Comparable Healing Rates. [PDF]

Orthop J Sports Med
Kutschke MJ, Agonias KB, Wyatt CW, Scheinberg JL, Johnson BL, Ellis HB, Wilson PL.   +6 more
europepmc   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Gender-Specific Network Structures of Depression and PTSD Symptoms in Chinese Firefighters. [PDF]

Psychol Res Behav Manag
Wang Y, Ni X, Li M, Zhang J, Ma Z, Gai Y, Wu Z, Fan J, Liu B, Song L, Yang Q.   +10 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Cross-bridge model for predicting muscle short-range stiffness during movement. [PDF]

PLoS Comput Biol
van der Zee TJ, Simha SN, Milburn GN, Campbell KS, Ting LH, De Groote F.   +5 more
europepmc   +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

Drive-By Time-Varying Feature Extraction for Bridge Damage Detection Using Second-Order Synchrosqueezing Transform. [PDF]

Sensors (Basel)
Gao M, Zhu X, Li J.
europepmc   +1 more source

Integrating Time‐Adjusted Imaging Instability Into Functional Outcome Prediction After Intracerebral Hemorrhage: Development and Validation of the HAGIV Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early risk stratification may support clinical decision‐making in spontaneous intracerebral hemorrhage (ICH). We aimed to develop and internally validate HAGIV, a score integrating frequency of imaging markers (FIM), a time‐adjusted non‐contrast computed tomography (CT) metric of hematoma expansion, with established predictors for 90‐
Lei Song, Ren Ke, Anqi Chen, Yufei Fu, Hang Zhou, Rujia Wang, Liwei Zou, Yongqiang Yu, Ming Yuan, Xiaoming Qiu, Mengzhou Xue   +10 more
wiley   +1 more source

Network structure of gambling-related cognitions and risk behaviors among sports bettors in the Democratic Republic of the Congo: a cross-sectional EBICglasso network analysis (<i>N</i> = 2261). [PDF]

Addict Behav Rep
Banzulu Bomba D, Koffi Nkazi M, Nguya Makonda K, Badimanya Albert C, Lusala Lutsasa M, Benangindu Kikumpa J.   +5 more
europepmc   +1 more source