Results 121 to 130 of about 3,466 (187)

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. [PDF]

, 2016
Epidemiologic studies clearly document the public health burden of sudden unexpected death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic cardiorespiratory dysfunction, both interictally and at the time of sudden death due ...
Ackerman, Albert, Anderson, Ansakorpi, Arking, Arking, Auerbach, Aurlien, Bagnall, Bastiaenen, Bateman, Behr, Behr, Behr, Behr, Benarroch, Bezzina, Bezzina, Bird, Brackenbury, Burke, Carvill, Chadwick, Cheah, Chen, Crotti, Davis, Dekker, Delogu, Epi4K Consortium, Ergul, Faingold, Faingold, Fodstad, Genton, Glasscock, Glasscock, Goldman, Hartmann, Hawkins, Heron, Hindocha, Hodges, Holth, International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address e-auea, Iwasa, Jamshidi, Jeffs, Johnson, Jouven, Kaab, Kalume, Kao, Kapplinger, Kash, Keller, Klassen, Klassen, Krahn, Larsen, Lehnart, Liu, Lopez-Santiago, Lossius, Ludwig, Marionneau, Marsman, Massey, Meuth, Monteggia, Mullally, Nashef, Nashef, Nashef, Noam, Novy, O'Brien, Ogiwara, Ogiwara, Papadakis, Partemi, Persson, Plant, Postma, Priori, Priori, Raju, Raju, Richerson, Roden, Rugg-Gunn, Russell, Sakauchi, Scheffer, Semsarian, Skluzacek, Sowers, Splawski, Stieber, Swan, Tecott, Tester, Tester, Tester, Tu, Tu, Tupal, Uteshev, Veeramah, Veeramah, Viskin, Wallace, Weckhuysen, Westenskow, Wilde, Yoshikane, Zaidi   +116 more
core   +1 more source

Sodium Channels and Mammalian Sensory Mechanotransduction [PDF]

, 2012
Background: Members of the degenerin/epithelial (DEG/ENaC) sodium channel family are mechanosensors in C elegans, and Nav1.7 and Nav1.8 voltage-gated sodium channel knockout mice have major deficits in mechanosensation.
Edith Hummler, Fan Wang, Francois Rugiero, Hannes Kiesewetter, John N Wood, Mohammed A Nassar, Rachel Hatch, Ramin Raouf   +7 more
core   +4 more sources

Cloning and Characterization of a Mouse Sensory Neuron Tetrodotoxin-Resistant Voltage-Gated Sodium Channel Gene, Scn10a

Genomics, 1997
Small-diameter sensory neurons associated with unmyelinated axons express a tetrodotoxin-insensitive (TTXi) voltage-gated sodium channel (VGSC) that may play an important role in the transmission of nociceptive information to the spinal cord. A TTXi VGSC, named SNS, that accounts for the tetrodotoxin-resistant sodium current described in sensory ...
V A, Souslova, M, Fox, J N, Wood, A N, Akopian   +3 more
openaire   +2 more sources

Gray matter structural correlates of fatigue in multiple sclerosis [PDF]

, 2016
We aimed to assess whether frontal cortex-striatum-thalamus (FCST) pathway or other grey matter (GM) structures are associated with longitudinal patterns of fatigue, namely reversible (RF) versus sustained fatigue (SF).
Nazeri, Aria
core   +1 more source

Familial Episodic Pain Syndromes

Journal of Pain Research, 2022
Yu Shen,1 Yilei Zheng,1 Daojun Hong1,2 1Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, People’s Republic of China; 2Department of Medical Genetics, The First Affiliated Hospital of Nanchang University ...
Shen Y, Zheng Y, Hong D
doaj  

Prediction models of persistent taxane-induced peripheral neuropathy among breast cancer survivors using whole-exome sequencing

npj Precision Oncology
Persistent taxane-induced peripheral neuropathy (TIPN) is highly prevalent among early-stage breast cancer survivors (ESBCS) and has detrimental effect on quality of life.
Kristina Engvall, Hanna Uvdal, Niclas Björn, Elisabeth Åvall-Lundqvist, Henrik Gréen   +4 more
doaj   +1 more source

SICK SINUS SYNDROME AND ASSOCIATION WITH MICRO RNA1976 MYH6 AND SCN10A GENE

, 2020
Sick sinus syndrome is a leading cause of hospitalization, especially for people over 70 years old. Acute and intensive care nurses play a significant role in supporting patients in cardiac control units with the diagnosis and treatment. The medical care of patients with sick syndrome consists of careful cardiac observation, monitoring of symptoms and ...
openaire   +1 more source

Spatial transcriptomics and single-nucleus RNA sequencing reveal a transcriptomic atlas of adult human spinal cord

eLife
Despite the recognized importance of the spinal cord in sensory processing, motor behaviors, and neural diseases, the underlying organization of neuronal clusters and their spatial location remain elusive.
Donghang Zhang, Yali Chen, Yiyong Wei, Hongjun Chen, Yujie Wu, Lin Wu, Jin Li, Qiyang Ren, Changhong Miao, Tao Zhu, Jin Liu, Bowen Ke, Cheng Zhou   +12 more
doaj   +1 more source

Rapid and accurate multi-phenotype imputation for millions of individuals

Nature Communications
Deep phenotyping can enhance the power of genetic analysis, including genome-wide association studies (GWAS), but the occurrence of missing phenotypes compromises the potential of such resources.
Lin-Lin Gu, Hong-Shan Wu, Tian-Yi Liu, Yong-Jie Zhang, Jing-Cheng He, Xiao-Lei Liu, Zhi-Yong Wang, Guo-Bo Chen, Dan Jiang, Ming Fang   +9 more
doaj   +1 more source

Variația genetică a genei SCN10A în populația tânără din Republica Moldova

, 2020
Introducere. Intervalul PR reflectă timpul de conducere nodală atrială și atrioventriculară și este un predictor important al riscului de aritmie. Prin studiile de tip GWAS a fost identificată asocierea SNPului rs6795970, nonsinonim, al genei SCN10A, cu intervalul PR la indivizii din populația europeană. Scopul lucrării.
Butovscaia, C.V., Buza-Zueva, A.G., Galea-Abdușa, D.I., Curocichin, G.S., Kurochkin, G.   +4 more
openaire   +1 more source