Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

(2014) Carola Hedberg et al.   JOURNAL OF NEUROLOGY

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

(2013) Johann Böhm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement

(2011) Simona Boncompagni et al.   AGE

STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation

(2011) Martin Muik et al.   EMBO JOURNAL

Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency

(2011) S. Fuchs et al.   JOURNAL OF IMMUNOLOGY

Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

(2011) Stefano Schiaffino   NEUROMUSCULAR DISORDERS

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

(2009) Capucine Picard et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structural and Mechanistic Insights into STIM1-Mediated Initiation of Store-Operated Calcium Entry

(2008) Peter B. Stathopulos et al.   CELL