Results 171 to 180 of about 308,842 (252)

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

BCyrius: An Upgraded Version of Cyrius for Accurate CYP2D6 Genotyping From Short-Read Sequencing Data. [PDF]

Pharmacol Res Perspect
Halman A, Conyers R.
europepmc   +1 more source

High-throughput Interpretation of Killer-cell Immunoglobulin-like Receptor Short-read Sequencing Data with PING. [PDF]

PLoS Comput Biol, 2021
Marin WM, Dandekar R, Augusto DG, Yusufali T, Heyn B, Hofmann J, Lange V, Sauter J, Norman PJ, Hollenbach JA.   +9 more
europepmc   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

Long-Read Sequencing Outperforms Short-Read Sequencing in Detecting Most Structural Variations. [PDF]

Serican J Med
Chen X, Lu X, Shi X, Yu S, Zhao J.
europepmc   +1 more source

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

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

Uncovering the genomic complexity of PAX5 intragenic tandem multiplication via long-read and short-read sequencing.

Blood
Liu Y, Ju B, Dong L, Loyd M, Brady SW, Ries R, Feng Y, Mulder H, Plyler E, Deardorff C, McBride A, Jones T, Eckert A, Kolekar P, Fan L, Li H, Briviba M, Zhao H, Bennett D, Neale G, Chang TC, Chen W, Pounds S, Wu G, Mullighan C, Geeleher P, Ji L, Yang JJ, Meshinchi S, Brown PA, Carroll WL, Zhang J, Loh ML, Easton J, Ma X.   +34 more
europepmc   +1 more source

Deciphering the genomic characters of Ptygonotus chinghaiensis, a high-altitude grasshopper endemic to the Qinghai-Tibet Plateau, using low-coverage short-read sequencing. [PDF]

BMC Genomics
Wang J, Yao B, Xu SQ, Zhu W.
europepmc   +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