Found: 26
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Retigabine suppresses loss of force in mouse models of hypokalaemic periodic paralysis.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1554, doi. 10.1093/brain/awac441
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- Article
Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.
- Published in:
- 2016
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- journal article
When all is lost…a severe myopathy with hypotonia from sodium channel mutations.
- Published in:
- 2016
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- Publication type:
- journal article
A calcium channel mutant mouse model of hypokalemic periodic paralysis.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 1, doi. 10.1172/JCI66091
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- Article
A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.
- Published in:
- 2011
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- journal article
Sodium channels gone wild: resurgent current from neuronal and muscle channelopathies.
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- 2010
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- journal article
Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.
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- 2008
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- journal article
A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.
- Published in:
- Journal of Physiology, 2005, v. 565, n. 2, p. 371, doi. 10.1113/jphysiol.2005.082909
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- Article
Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na<sup>+</sup> channel.
- Published in:
- Journal of Physiology, 2001, v. 537, n. 3, p. 701, doi. 10.1111/j.1469-7793.2001.00701.x
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- Article
Guidelines on clinical presentation and management of nondystrophic myotonias.
- Published in:
- 2020
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- Publication type:
- journal article
Review of the Diagnosis and Treatment of Periodic Paralysis.
- Published in:
- 2018
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- journal article
Paradoxical depolarization of BA2+- treated muscle exposed to low extracellular K+: insights into resting potential abnormalities in hypokalemic paralysis.
- Published in:
- 2008
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- Publication type:
- journal article
Paradoxical depolarization of BA<sup>2+</sup>- treated muscle exposed to low extracellular K<sup>+</sup>: Insights into resting potential abnormalities in hypokalemic paralysis.
- Published in:
- Muscle & Nerve, 2008, v. 37, n. 3, p. 326, doi. 10.1002/mus.20928
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- Publication type:
- Article
Slow inactivation of the NaV1.4 sodium channel in mammalian cells is impeded by co-expression of the β1 subunit.
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- Pflügers Archiv: European Journal of Physiology, 2009, v. 457, n. 6, p. 1253, doi. 10.1007/s00424-008-0600-8
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- Publication type:
- Article
A highly-selective chloride microelectrode based on a mercuracarborand anion carrier.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-54885-6
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- Article
Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.
- Published in:
- 2013
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- Publication type:
- journal article
Epilepsy channelopathies go neddy: stabilizing NaV1.1 channels by neddylation.
- Published in:
- 2021
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- Publication type:
- journal article
MOD-1 is a seratonin-gated chloride channel that modulates locomotory behaviour in C. elegans.
- Published in:
- Nature, 2000, v. 408, n. 6811, p. 470, doi. 10.1038/35044083
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- Article
Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.
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- Journal of Physiology, 1998, v. 510, n. 3, p. 685, doi. 10.1111/j.1469-7793.1998.685bj.x
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- Article
The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.
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- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3925, doi. 10.1093/hmg/ddr311
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- Article
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.
- Published in:
- Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00077
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- Article
Voltage-sensor mutations in channelopathies of skeletal muscle.
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- Journal of Physiology, 2010, v. 588, n. 11, p. 1887, doi. 10.1113/jphysiol.2010.186874
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- Article
Ion channels and disease.
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- Annals of Neurology, 2000, v. 48, n. 3, p. 404, doi. 10.1002/1531-8249(200009)48:3<404::AID-ANA26>3.0.CO;2-5
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- Article
A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism.
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- Annals of Neurology, 1997, v. 42, n. 2, p. 253, doi. 10.1002/ana.410420219
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- Article
The cloning and expression of a sodium channel β1-subunit cDNA from human brain.
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- Human Molecular Genetics, 1993, v. 2, n. 6, p. 745
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- Article
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses.
- Published in:
- Kidney International, 2000, v. 57, n. 3, p. 772, doi. 10.1046/j.1523-1755.2000.00914.x
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- Article