Results 201 to 210 of about 2,587,113 (246)

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

A Novel Directional Element for AC Lines in Systems with Inverter-Based Resources. [PDF]

Sensors (Basel)
Qian K, Wen M, Xue X, Sun Z.
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Associations of GA and GMI/GA Ratio With All-Cause Mortality in Well-Controlled Type 2 Diabetes Defined by Continuous Glucose Monitoring. [PDF]

Diabetes Metab Res Rev
Ni J, Zhang C, Cai J, Wang C, Zhu W, Wang Y, Ma X, Lu J, Xia T, Zhou J.   +9 more
europepmc   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Experimental evaluation and accuracy analysis of inductive current transformers under realistic nonlinear and harmonic-rich load conditions. [PDF]

Sci Rep
Daouli BHL, Mana H, Labiod C, Bebboukha A, Zaitsev I.   +4 more
europepmc   +1 more source

Spectroscopy of heat transport and violation of the Wiedemann-Franz law in GaAs hydrodynamic mesoscopic channel. [PDF]

Sci Rep
Pusep YA, Patricio MAT, Glazov MM, Oliveira VA, Teodoro MD, Levin AD, Bakarov AK, Gusev GM.   +7 more
europepmc   +1 more source

KCa3.1 mediates radioresistance of silver nanoparticles in human glioblastoma cells. [PDF]

Pflugers Arch
Ragonese F, Biagini A, Sallicandro L, Mirarchi A, Reali G, De Luca A, Arcuri C, Flamini S, Bereshchenko O, Cogliati P, Spogli R, Sabbatini P, Bruscoli S, Sportoletti P, Fioretti B.   +14 more
europepmc   +1 more source

A high-gain symmetric-bipolar buck-boost AC-AC converter with step-changed output frequency and rectifier operation. [PDF]

Sci Rep
Karimi Hajiabadi M, Mosallanejad A, Salemnia A, Lahooti Eshkevari A.   +3 more
europepmc   +1 more source