Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
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Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
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Brown Adipose Tissue Controls Skeletal Muscle Function via the Secretion of Myostatin.
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Antioxidants restore store-operated Ca(2+) entry in patient-iPSC-derived myotubes with tubular aggregate myopathy-associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein.
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FASEB Bioadv. 2023 Oct 26;5(11):453-469. doi: 10.1096/fba.2023-00069. eCollection 2023 Nov.
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
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Store-operated calcium entry: From physiology to tubular aggregate myopathy.
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