Found: 12
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Compound heterozygous RYR1‐RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival.
- Published in:
- FASEB Journal, 2024, v. 38, n. 20, p. 1, doi. 10.1096/fj.202401189R
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- Article
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31088-8
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- Article
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31088-8
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- Article
Regions of ryanodine receptors that influence activation by the dihydropyridine receptor β<sub>1a</sub> subunit.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0049-3
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- Article
Murine Fig4 is dispensable for muscle development but required for muscle function.
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- Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-21
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- Article
Ca<sup>2+</sup> Release in Muscle Fibers Expressing R4892W and G4896V Type 1 Ryanodine Receptor Disease Mutants.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054042
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- Article
Tamoxifen therapy in a murine model of myotubular myopathy.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07057-5
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- Article
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
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- Human Molecular Genetics, 2024, v. 33, n. 3, p. 254, doi. 10.1093/hmg/ddad178
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- Article
Mouse model of severe recessive RYR1-related myopathy.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3024, doi. 10.1093/hmg/ddz105
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- Article
Defects in Ca<sup>2+</sup> release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.
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- Journal of Physiology, 2011, v. 589, n. 22, p. 5361, doi. 10.1113/jphysiol.2011.216408
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- Article
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41801-2
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- Article
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-18865-z
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- Article