Associated Papers
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Genetics, 2025
CRAC channels and patho-physiology of peripheral organ systems.
Bhardwaj R et al.
Biochemical Society Transactions, 2025
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Biorxiv : the Preprint Server for Biology, 2025
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
de la Fuente-Munoz E et al.
Frontiers in Immunology, 2022
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Ticci C et al.
Muscle & Nerve, 2021
Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond.
Conte E et al.
Cells, 2021
Pathological Mechanism of a Constitutively Active Form of Stromal Interaction Molecule 1 in Skeletal Muscle.
Park JH et al.
Biomolecules, 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
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
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.
Cordero-Sanchez C et al.
Disease Models & Mechanisms, 2019
Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.
Michelucci A et al.
Cell Calcium, 2018
[Tubular aggregate myopathy and Stormorken syndrome].
Böhm J et al.
Medecine Sciences : M/s, 2018
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.
Borsani O et al.
Frontiers in Neurology, 2018
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM et al.
International Journal of Molecular Sciences, 2016
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS et al.
Annals of the New York Academy of Sciences, 2015
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.
Walter MC et al.
Neuromuscular Disorders : Nmd, 2015
Stormorken syndrome caused by STIM1 mutation: A case report and literature review.
Sun W et al.
Medicine International, 0