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
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.
Marabelli C et al.
Biomolecules, 2023
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
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone V et al.
Human Mutation, 2017
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