Associated Papers
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.
Xia X et al.
Journal of Human Genetics, 2026
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.
Laarne M et al.
Journal of Neurology, 2025
The spectrum of neuromuscular diseases with tubular aggregates.
Rashed HR et al.
Neuromuscular Disorders : Nmd, 2025
CASQ1-related myopathy with additional primary Sjogren's disease: a case report.
Hu N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE.
Gamberucci A et al.
Journal of Muscle Research and Cell Motility, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
CASQ1-related myopathy: The first report from China and the literature review.
Zhang KY et al.
Clinical Case Reports, 2022
[Tubular aggregate myopathy and Stormorken syndrome].
Böhm J et al.
Medecine Sciences : M/s, 2018
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
Böhm J et al.
Acta Neuropathologica, 2018
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