Associated Papers
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Salvi A et al.
Clinical Genetics, 2021
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G et al.
Human Mutation, 2020
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.
Silva-Rojas R et al.
Frontiers in Physiology, 2020
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