Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features

A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state

(2018) Marc Fahrner et al.   Nature Communications

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

(2018) Johann Böhm et al.   CELL CALCIUM

STIM1 R304W causes muscle degeneration and impaired platelet activation in mice

(2018) Thilini H. Gamage et al.   CELL CALCIUM

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

(2018) Oscar Borsani et al.   Frontiers in Neurology

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

(2017) Johann Böhm et al.   HUMAN MUTATION

A novel gain-of-function mutation inORAI1causes late-onset tubular aggregate myopathy and congenital miosis

(2016) M. Garibaldi et al.   CLINICAL GENETICS

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

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

(2014) Johann Böhm et al.   JOURNAL OF MEDICAL GENETICS

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

Calcium Homeostasis and Sensitization in Pulmonary Arterial Smooth Muscle

(2013) Nikki L. Jernigan et al.   MICROCIRCULATION

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

(2010) Helge Stormorken et al.   CLINICAL GENETICS

Biophysical characterization of the EF-hand and SAM domain containing Ca2+ sensory region of STIM1 and STIM2

(2008) Le Zheng et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS