Associated Papers
Core myopathy in two siblings with a biallelic variant in the CACNA1S gene-A case series study.
Khoeini T et al.
Clinical Case Reports, 2024
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Periviita V et al.
Neurology, 2023
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G et al.
Genes, 2023
A reconstituted depolarization-induced Ca2+ release platform for validation of skeletal muscle disease mutations and drug discovery.
Murayama T et al.
The Journal of General Physiology, 2022
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.
Yiş U et al.
Journal of Neuromuscular Diseases, 2019
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Laugel-Haushalter V et al.
Frontiers in Physiology, 2018
30319441 (PubMed )
Supplement: Table_1.DOCX
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V et al.
Acta Neuropathologica, 2017
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