Results 91 to 100 of about 54,828 (282)

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

Two-photon imaging of calcium in virally transfected striate cortical neurons of behaving monkey.

PLoS ONE, 2010
Two-photon scanning microscopy has advanced our understanding of neural signaling in non-mammalian species and mammals. Various developments are needed to perform two-photon scanning microscopy over prolonged periods in non-human primates performing a ...
Barbara Heider, Jason L Nathanson, Ehud Y Isacoff, Edward M Callaway, Ralph M Siegel   +4 more
doaj   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Nonlinear ultrasonic analysis inspired by phase-based motion magnification

, 2023
Nonlinear ultrasonic modulation is favored for early-stage fatigue crack detection by inspecting the modulation components at the sum and difference of two distinct input frequencies.
Sohn, Hoon, Liu, Peipei, Jang, jinho, Ma, Zhanxiong   +3 more
core  

The time course of adaptation to spatial contrast [PDF]

, 1991
We explored the buildup and decay of threshold elevation during and after adaptation to sinewave gratings in a series of experiments investigating the effects of adapting time, adapting contrast, spatial frequency and retinal eccentricity.
Harris, J. P., Georgeson, M. A., Magnussen, S., Greenlee, Mark W.   +3 more
core   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Multi-Point Optical Flow Cable Force Measurement Method Based on Euler Motion Magnification

Buildings
This study introduces a multi-point optical flow cable force measurement method based on Euler motion amplification to address challenges in accurately measuring cable displacement under small displacement conditions and mitigating background ...
Jinzhi Wu, Bingyi Yan, Yu Xue, Jie Qin, Deqing You, Guojun Sun   +5 more
doaj   +1 more source

Applying video motion magnification to reveal spontaneous tympanic membrane displacement as an indirect measure of intracranial pressure in patients with brain pathologies. [PDF]

Acta Neurochir (Wien), 2023
Uryga A, Kazimierska A, Popek M, Dragan B, Burzyńska M, Masalski M, Kasprowicz M.   +6 more
europepmc   +1 more source

Subtle Facial Expression Recognition Using Adaptive Magnification of Discriminative Facial Motion

, 2015
Recently, recognizing spontaneous facial expression has gained increasing attention in various emerging applications related to human affect. Spontaneous facial expression may generally have different temporal characteristics across subjects, emotion ...
Ro, Yong Man, Sung Yeong Park, Seung Ho Lee, Yong Man Ro, Lee, Seung Ho, Park, Sung Yeong   +5 more
core   +1 more source