Associated Papers
Antioxidants restore store-operated Ca2+ entry in patient-iPSC-derived myotubes with tubular aggregate myopathy-associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein.
Sakai-Takemura F et al.
Faseb Bioadvances, 2023
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Ticci C et al.
Muscle & Nerve, 2021
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report.
Jiang LJ et al.
Frontiers in Neurology, 2021
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G et al.
Human Mutation, 2020
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.
Okuma H et al.
Neurology. Genetics, 2016
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