Results 81 to 90 of about 31,520 (324)

Polysomnography Report for a Boy with TBC1D24 Mutation

Journal of Sleep Sciences, 2018
Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness
Khatereh Khamenehpour, Shabnam Jalilolghadr   +1 more
doaj  

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model

Disease Models & Mechanisms, 2022
Costello syndrome (CS) is a congenital disorder caused by heterozygous activating germline HRAS mutations in the canonical Ras/mitogen-activated protein kinase (Ras/MAPK) pathway.
William E. Tidyman, Alice F. Goodwin, Yoshiko Maeda, Ophir D. Klein, Katherine A. Rauen   +4 more
doaj   +1 more source

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease [PDF]

, 2016
INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features.
Bhattacharya, K, Christodoulou, J, Clark, D, Ellaway, C, Farrar, M, Menezes, MP, Ouvrier, R, Pitt, M, Rahman, S, Ryan, MM, Sampaio, H, Thorburn, DR, Ware, TL, Wedatilake, Y   +13 more
core   +1 more source

Mechanisms of Aristolochic Acid Resistance in Specialist Butterflies and Evolutionary Insights for Potential Protective Pathways

Advanced Science, EarlyView.
The study provides an extreme example of insect adaptation to highly toxic defenses of host plants, and investigates the complex strategies to resist carcinogenic aristolochic acids, including physical isolation, metabolic detoxification, and DNA repair.
Yang Luan, Yubo Zhang, Jingjing Li, Jianqing Zhu, Yuyang Lei, Yushi Hu, Zhenqiang Xin, Tianpei Xie, Jiang Zheng, Yuanyuan Lin, Jingjing Shen, Yiyi Cao, Xinyue You, Jing Xi, Jiaying Wu, Weiying Liu, Xinyu Zhang, Yuanting Zheng, David J. Lohman, Leming Shi, Wei Zhang   +20 more
wiley   +1 more source

Development of an Evidence-Based Clinical Algorithm for Practice in Hypotonia Assessment: A Proposal

JMIR Research Protocols, 2014
BackgroundAssessing muscle tone in children is essential during the neurological assessment and is often essential in ensuring a more accurate diagnosis for appropriate management.
Naidoo, Pragashnie
doaj   +1 more source

The cerebellum and motor dysfunction in neuropsychiatric disorders [PDF]

, 2007
The cerebellum is densely interconnected with sensory-motor areas of the cerebral cortex, and in man, the great expansion of the association areas of cerebral cortex is also paralleled by an expansion of the lateral cerebellar hemispheres.
Gowen, Emma, Miall, R. Chris
core   +3 more sources

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara, Navas, P., Salviati, Leonardo, Trevisson, Eva   +3 more
core  

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]

, 2017
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C, Carss, Kj, Dale, Rc, Danti, FEDERICA RACHELE, Galosi, Serena, Guerrini, R. 1., Kurian, Ma, Leuzzi, Vincenzo, Mahant, N, Mcshane, T, Mctague, A, Mohammad, Ss, Montomoli, M, Ng, J, Parrini, E, Raymond, Fl, Romani, M, Samanta, R, Shah, U, Vadlamani, G, Valente, Em   +20 more
core   +3 more sources

All‐in‐One Underwater Quality Evaluation Metamaterial With Mechanical Robustness, Sound Attenuation, and Diffuse Reflection

Advanced Science, EarlyView.
In this work, a bioinspired all‐in‐one underwater quality evaluation metamaterial, combining sound attenuation, diffuse reflection, and mechanical robustness, is proposed based on jumping spider locomotion and human skeletal biomechanics. Meanwhile, a CNN‑driven quality evaluation framework is established for theoretically dimension‐reduced ...
Hongze Li, Zhenyu Li, Jinshui Yang, Jianhao Wu, Yidan Chen, Linzhi Wu, Hong Hu, Penglin Gao, Yegao Qu   +8 more
wiley   +1 more source