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
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
Genetic defects are common in myopathies with tubular aggregates.
Gang Q et al.
Annals of Clinical and Translational Neurology, 2022
Investigating the genetic susceptibility to exertional heat illness.
Gardner L et al.
Journal of Medical Genetics, 2020
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5
[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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