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
STIM1 controls calcineurin/Akt/mTOR/NFATC2-mediated osteoclastogenesis induced by RANKL/M-CSF.
Huang Y et al.
Experimental and Therapeutic Medicine, 2020
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G et al.
Human Mutation, 2020
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G et al.
Human Mutation, 2014
A dominant STIM1 mutation causes Stormorken syndrome.
Misceo D et al.
Human Mutation, 2014
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.
Picard C et al.
The New England Journal of Medicine, 2009
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