Results 241 to 250 of about 193,097 (307)

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

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +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

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

Development and validation of a novel pulse optimization and beam control system for conventional and ultra high dose-per-pulse (FLASH) irradiation. [PDF]

Med Phys
Connell L, Esplen N, Lim R, Baikalov A, Coupey N, Nguyen C, Schüler E.   +6 more
europepmc   +1 more source

Integrated Electro-Optic Frequency Combs: Physical Mechanisms, Device Architectures, Material Platforms and System Applications. [PDF]

Nanomaterials (Basel)
Zeng H, Hu Q, Zhang Y, Liu X, Zhuang Y, Wang Z, Wei X, Xu Z.   +7 more
europepmc   +1 more source

Temporally Coherent Synchrotron Light Sources. [PDF]

J Synchrotron Radiat
Antipov S, Agapov I, Röhlsberger R, Wille HC.   +3 more
europepmc   +1 more source

Context-dependent interaction between goal-directed and habitual control under time pressure. [PDF]

Commun Psychol
Wagner BJ, Frölich S, Schwöbel S, Smolka MN, Kiebel SJ.   +4 more
europepmc   +1 more source

Controllable Surface Structures of Hydroxyapatite Processed by Picosecond Laser in Air and Underwater: A Comparative Study of Experiment and Simulation. [PDF]

Materials (Basel)
Liu L, Yao P, Chu D, Qu S, Huang C.
europepmc   +1 more source

Hippocampal place cells map terrain geometry independently of behavior. [PDF]

Sci Adv
Grieves RM, Duvelle É, Taube JS.
europepmc   +1 more source