Results 211 to 220 of about 524,464 (264)

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

Characterization and modulation of human insulin degrading enzyme conformational dynamics to control enzyme activity. [PDF]

Elife
Mancl JM, Liang WG, Bayhi NL, Wei H, Budell WC, Mendez JH, Sosnick TR, Carragher B, Potter CS, Potter CS, Tang WJ.   +10 more
europepmc   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Algorithm dependence of patient phenotypes in Long COVID: a patient-led, multi-method clustering of 6031 patients using 162 self-reported symptoms. [PDF]

Oxf Open Immunol
Green TD, McWilliams C, de Figueiredo L, Soares L, Pollack B, Cohen AK, Zhi-Xuan T, Falor T, Davis HE.   +8 more
europepmc   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Carbon budget of common urban tree species in an arid city based on life cycle assessment. [PDF]

PLoS One
Zhang R, Wang L, Tian X, Song Y.
europepmc   +1 more source

Multi-Color Flexible Electrochromic Device for Smart Anti-Counterfeiting. [PDF]

Angew Chem Int Ed Engl
Zhao F, Huang B, Gong K, Wang B, Sun A, Liu Y, Zhang W, Chen J, Li H, Yu WW.   +9 more
europepmc   +1 more source

The relationship between green space and myopia in children and adolescents: a systematic review and meta-analysis. [PDF]

Front Public Health
Wang J, Sun G, Shen C, Zhu H, He Z.
europepmc   +1 more source

Constellation Plots in KNIME: An Automated Scaffold-Based Workflow for Interactive Chemical Space Visualization. [PDF]

Mol Inform
Ramírez-Márquez CD, López-López E, Medina-Franco JL.   +2 more
europepmc   +1 more source

Socioeconomic inequalities in exposure to neighbourhood environments for physical activity: a systematic review. [PDF]

Int J Behav Nutr Phys Act
van de Geest JDS, Cuenca VC, Schoonmade LJ, Cereijo L, Mora DJ, Meijer P, Lakerveld J.   +6 more
europepmc   +1 more source