Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Stephen C Cannon"'
Publikováno v:
Brain. 146:1554-1560
Recurrent episodes of weakness in periodic paralysis are caused by intermittent loss of muscle fibre excitability, as a consequence of sustained depolarization of the resting potential. Repolarization is favoured by increasing the fibre permeability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::610c61cc6dacf9f610a7ccbd0d6c040e
https://doi.org/10.1093/brain/awac441
https://doi.org/10.1093/brain/awac441
Autor:
Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Externí odkaz:
https://doaj.org/article/ca9e0c69c89b4806b15685496316c0ec
Autor:
Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing. Autosomal dominant SCN4A mutations were first linked to hyperkalemic periodic paralysis, then sub
Externí odkaz:
https://doaj.org/article/cdee1e9e5a74441a995371d88fa6eefe
Autor:
Marino, DiFranco, Stephen C, Cannon
Publikováno v:
American journal of physiology. Cell physiology. 323(2)
Hypokalemic periodic paralysis (HypoPP) is a channelopathy of skeletal muscle caused by missense mutations in the voltage sensor domains (usually at an arginine of the S4 segment) of the Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a25015184897111f48966440d8478629
https://pubmed.ncbi.nlm.nih.gov/35759432
https://pubmed.ncbi.nlm.nih.gov/35759432
Autor:
Marino DiFranco, Stephen C. Cannon
Publikováno v:
American Journal of Physiology-Cell Physiology. 323:C478-C485
Hypokalemic periodic paralysis (HypoPP) is a channelopathy of skeletal muscle caused by missense mutations in the voltage sensor domains (usually at an arginine of the S4 segment) of the CaV1.1 calcium channel or of the NaV1.4 sodium channel. The pri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ba5acd4d1697d4a4a154d8017344fd0
https://doi.org/10.1152/ajpcell.00209.2022
https://doi.org/10.1152/ajpcell.00209.2022
Autor:
Sanjeev Rajakulendran, Martin Tristani-Firouzi, Reza Sadjadi, James Cleland, Rabi Tawil, Giovanni Meola, Valeria Sansone, Jaya Trivedi, Stephen C Cannon, Michael G Hanna, Robert C. Griggs
ObjectiveA multi-center, prospective, cross-sectional natural history study to define the clinical phenotype of Andersen-Tawil syndrome, validate its current diagnostic criteria, explore genotype-phenotype correlations, and establish clinically relev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7073c5ed37dd02954a395d003c0e31d2
https://doi.org/10.1101/2022.05.26.22275429
https://doi.org/10.1101/2022.05.26.22275429
Autor:
Marbella Quiñonez, Stephen C. Cannon
ObjectiveThe goal of this experimental study was to test the hypothesis that the potassium channel opener retigabine can prevent the episodic loss of force in hypokalemic periodic paralysis (HypoPP).MethodsA knock-in mutant mouse model of HypoPP (Scn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c09f99e0742d7af22ec54f2d6c3d8e0
https://doi.org/10.1101/2022.05.20.492877
https://doi.org/10.1101/2022.05.20.492877
Publikováno v:
Journal of General Physiology. 154
The recurrent attacks of weakness in hypokalemic periodic paralysis (HypoPP) are caused by failure to maintain the resting potential, with paradoxical depolarization in low K+. Remarkably, 24 out of 25 HypoPP mutations are R/X substitutions in S4 seg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aafc45ef3f440ab96f144a3eb33a0759
https://doi.org/10.1085/jgp.2021ecc40
https://doi.org/10.1085/jgp.2021ecc40
Publikováno v:
Journal of General Physiology. 151:1146-1155
Ion movements across biological membranes, driven by electrochemical gradients or active transport mechanisms, control essential cell functions. Membrane ion movements can manifest as electrogenic currents or electroneutral fluxes, and either process
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::342da811ce3269e595fe3f54cdee2d87
https://doi.org/10.1085/jgp.201912398
https://doi.org/10.1085/jgp.201912398
Publikováno v:
The Journal of general physiology, vol 151, iss 4
The Journal of General Physiology
The Journal of General Physiology
Hypokalemic periodic paralysis causes episodes of muscle weakness. Mi et al. investigate the rest-induced weakness that occurs after vigorous exercise and find that acidosis, as occurs with exercise, leads to accumulation of myoplasmic Cl−, which f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b824d187b86bb953a6769c3f0727031
https://doi.org/10.1085/jgp.201812231
https://doi.org/10.1085/jgp.201812231