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Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.
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Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
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Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia.
Anaesth Intensive Care. 2016 Nov;44(6):762-768. doi: 10.1177/0310057X1604400625.
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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
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A guide to the 3D structure of the ryanodine receptor type 1 by cryoEM.
Protein Sci. 2017 Jan;26(1):52-68. doi: 10.1002/pro.3052. Epub 2016 Oct 13.
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RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.
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Structural insights into Ca(2+)-activated long-range allosteric channel gating of RyR1.
Cell Res. 2016 Sep;26(9):977-94. doi: 10.1038/cr.2016.99. Epub 2016 Aug 30.
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Current and future therapeutic approaches to the congenital myopathies.
Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8.
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Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.
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Ca handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
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