- Home
- Publications
- Publication Search
- Publication Details
Title
Genetic defects are common in myopathies with tubular aggregates
Authors
Keywords
-
Journal
Annals of Clinical and Translational Neurology
Volume 9, Issue 1, Pages 4-15
Publisher
Wiley
Online
2021-12-15
DOI
10.1002/acn3.51477
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
- (2019) Gilles Morin et al. HUMAN MUTATION
- Electromyographic Features in a Chinese Cohort With Hereditary Skeletal Muscle Channelopathies
- (2019) Jian Sun et al. JOURNAL OF CLINICAL NEUROPHYSIOLOGY
- Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy
- (2017) Virginia Barone et al. HUMAN MUTATION
- ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
- (2017) Johann Böhm et al. HUMAN MUTATION
- Early and lethal neurodegeneration with myasthenic and myopathic features
- (2017) David C. Schorling et al. NEUROLOGY
- Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
- (2017) Jean-Baptiste Noury et al. NEUROMUSCULAR DISORDERS
- Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation
- (2017) María E de la Morena-Barrio et al. PEDIATRIC RESEARCH
- Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures
- (2016) Stefen Brady et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
- (2015) Niccolo E. Mencacci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diseases caused by mutations inORAI1andSTIM1
- (2015) Rodrigo S. Lacruz et al. Annals of the New York Academy of Sciences
- 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
- (2015) Maggie C. Walter et al. NEUROMUSCULAR DISORDERS
- Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy
- (2015) Yehani Wedatilake et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- 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
- 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
- Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
- (2013) Johann Böhm et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes
- (2013) Henry Houlden BRAIN
- Congenital myasthenic syndromes due to mutations inALG2andALG14
- (2013) Judith Cossins et al. BRAIN
- Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
- (2013) Katarzyna Zoltowska et al. HUMAN MOLECULAR GENETICS
- Identification ofDPAGT1as a new gene in which mutations cause a congenital myasthenic syndrome
- (2012) Katsiaryna Belaya et al. Annals of the New York Academy of Sciences
- Mutations of the Ca2+-sensing Stromal Interaction Molecule STIM1 Regulate Ca2+Influx by Altered Oligomerization of STIM1 and by Destabilization of the Ca2+Channel Orai1
- (2012) Tatiana Kilch et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- 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
- The Expanding Horizons of Asparagine-Linked Glycosylation
- (2011) Angelyn Larkin et al. BIOCHEMISTRY
- Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
- (2011) Velina Guergueltcheva et al. JOURNAL OF NEUROLOGY
- Muscle Phosphoglycerate Mutase Deficiency Revisited
- (2009) Ali Naini et al. ARCHIVES OF NEUROLOGY
- Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene
- (2009) Paola Tonin et al. NEUROMUSCULAR DISORDERS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now