Results 61 to 70 of about 117,768 (256)

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

Vocal mechanics in Darwin's finches: correlation of beak gape and song frequency [PDF]

Journal of Experimental Biology, 2004
SUMMARYRecent studies of vocal mechanics in songbirds have identified a functional role for the beak in sound production. The vocal tract (trachea and beak)filters harmonic overtones from sounds produced by the syrinx, and birds can fine-tune vocal tract resonance properties through changes in beak gape.
Podos, J, Southall, JA, Rossi-Santos, MR
openaire   +3 more sources

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Bird song and anthropogenic noise: vocal constraints may explain why birds sing higher-frequency songs in cities [PDF]

Proceedings of the Royal Society B: Biological Sciences, 2013
When animals live in cities, they have to adjust their behaviour and life histories to novel environments. Noise pollution puts a severe constraint on vocal communication by interfering with the detection of acoustic signals. Recent studies show that city birds sing higher-frequency songs than their conspecifics in non-urban habitats. This
Nemeth, E., Pieretti, N., Zollinger, S., Geberzahn, N., Partecke, J., Miranda, A., Brumm, H.   +6 more
openaire   +3 more sources

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

Red shift, blue shift: investigating Doppler shifts, blubber thickness, and migration as explanations of seasonal variation in the tonality of Antarctic blue whale song. [PDF]

PLoS ONE, 2014
The song of Antarctic blue whales (Balaenoptera musculus intermedia) comprises repeated, stereotyped, low-frequency calls. Measurements of these calls from recordings spanning many years have revealed a long-term linear decline as well as an intra-annual
Brian S Miller, Russell Leaper, Susannah Calderan, Jason Gedamke   +3 more
doaj   +1 more source

Integrating Time‐Adjusted Imaging Instability Into Functional Outcome Prediction After Intracerebral Hemorrhage: Development and Validation of the HAGIV Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early risk stratification may support clinical decision‐making in spontaneous intracerebral hemorrhage (ICH). We aimed to develop and internally validate HAGIV, a score integrating frequency of imaging markers (FIM), a time‐adjusted non‐contrast computed tomography (CT) metric of hematoma expansion, with established predictors for 90‐
Lei Song, Ren Ke, Anqi Chen, Yufei Fu, Hang Zhou, Rujia Wang, Liwei Zou, Yongqiang Yu, Ming Yuan, Xiaoming Qiu, Mengzhou Xue   +10 more
wiley   +1 more source

Correlation of song frequency and body weight in passerine birds [PDF]

Experientia, 1980
Frequency analysis of the songs of 90 European passerine species shown a correlation with body weight. In a number of species a dependence on habitat was found.
openaire   +1 more source

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu, Changgeng Song, Dianwei Wu, Xiaoqian Niu, Jianmin Hao, Lijuan Liu, Xiaogang Kang, Wen Jiang   +7 more
wiley   +1 more source

Behavioral responses of a parasitoid fly to rapidly evolving host signals

Ecology and Evolution, 2022
Animals eavesdrop on signals and cues generated by prey, predators, hosts, parasites, competing species, and conspecifics, and the conspicuousness of sexual signals makes them particularly susceptible.
E. Dale Broder, James H. Gallagher, Aaron W. Wikle, Cameron P. Venable, David M. Zonana, Spencer J. Ingley, Tanner C. Smith, Robin M. Tinghitella   +7 more
doaj   +1 more source