标题
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
作者
关键词
-
出版物
Frontiers in Neurology
Volume 12, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2021-08-02
DOI
10.3389/fneur.2021.522513
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features
- (2019) Ang Li et al. JOURNAL OF CHILD NEUROLOGY
- Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome
- (2018) A. Alonso-Jiménez et al. EUROPEAN JOURNAL OF NEUROLOGY
- 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 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice
- (2018) Roberto Silva-Rojas et al. HUMAN MOLECULAR GENETICS
- 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
- 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
- Stim and Orai proteins in neuronal Ca2+ signaling and excitability
- (2015) Francesco Moccia et al. Frontiers in Cellular Neuroscience
- 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
- Immunodeficiency due to defects in store-operated calcium entry
- (2011) Stefan Feske Annals of the New York Academy of Sciences
- Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency
- (2011) S. Fuchs et al. JOURNAL OF IMMUNOLOGY
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