Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature
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Title
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature
Authors
Keywords
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Journal
Frontiers in Neurology
Volume 9, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2018-10-15
DOI
10.3389/fneur.2018.00859
References
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Related references
Note: Only part of the references are listed.- Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
- (2017) Jean-Baptiste Noury et al. NEUROMUSCULAR DISORDERS
- Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
- (2017) Elizabeth Harris et al. NEUROMUSCULAR DISORDERS
- Diseases caused by mutations inORAI1andSTIM1
- (2015) Rodrigo S. Lacruz et al. Annals of the New York Academy of Sciences
- York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
- (2015) Thomas Markello et al. MOLECULAR GENETICS AND METABOLISM
- Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
- (2015) Giorgio Tasca et al. NEUROMUSCULAR DISORDERS
- 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
- (2015) Maggie C. Walter et al. NEUROMUSCULAR DISORDERS
- Inside-out Ca2+ signalling prompted by STIM1 conformational switch
- (2015) Guolin Ma et al. Nature Communications
- Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels
- (2014) Yukari Endo et al. HUMAN MOLECULAR GENETICS
- Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
- (2014) Gilles Morin et al. HUMAN MUTATION
- 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
- 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
- Inhibition of STIM1 phosphorylation underlies resveratrol-induced inhibition of store-operated calcium entry
- (2013) Vanessa Casas-Rua et al. BIOCHEMICAL PHARMACOLOGY
- Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
- (2012) Katsiaryna Belaya et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis
- (2010) Helge Stormorken et al. CLINICAL GENETICS
- 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
- Pharmacology of Store-operated Calcium Channels
- (2010) J. W. Putney MOLECULAR INTERVENTIONS
- STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
- (2009) Capucine Picard et al. NEW ENGLAND JOURNAL OF MEDICINE
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