Results 251 to 260 of about 3,722,110 (313)

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

Multivariate age-related variations in quantitative MRI maps: widespread age-related differences revisited. [PDF]

Front Neurosci
Moallemian S, Bastin C, Callaghan MF, Phillips C.   +3 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

The Association of Intra-Operative Steroid Administration on Hearing Threshold and Speech Perception Outcomes in Adult Cochlear Implant Recipients: A Retrospective Cohort Study. [PDF]

Audiol Res
Anastasiadou S, Turner E, Bruno P, Gorea M, Yousif M, Cheung L.   +5 more
europepmc   +1 more source

Periodic limb movements of sleep: A comparison of REM and NREM. [PDF]

Sleep Med X
Barone DA, Pathak B, Li H, Krieger AC.
europepmc   +1 more source

Extension of overlap measures for Multi-Class Biomarker Evaluation in Alzheimer's Disease. [PDF]

Sci Rep
Sierra Marquina VM, Pardo MDC, Franco-Pereira AM.   +2 more
europepmc   +1 more source