Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults.
Dubey D et al.
Jama Neurology, 2022
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Pradhan BS et al.
International Journal of Molecular Sciences, 2020
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
28771489 (PubMed )
Supplement: pone.0181465.s002.xlsx › Supplementary_Table_2
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL et al.
Circulation. Cardiovascular Genetics, 2013
Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene.
Arias Gómez M et al.
Muscle & Nerve, 2011
Caveolinopathies: from the biology of caveolin-3 to human diseases.
Gazzerro E et al.
European Journal of Human Genetics : Ejhg, 2010
Two novel CAV3 gene mutations in Japanese families.
Sugie K et al.
Neuromuscular Disorders : Nmd, 2004
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
Alias L et al.
Neuromuscular Disorders : Nmd, 2004
CAV3 mutation in a patient with transient hyperCKemia and myalgia.
Macias A et al.
Neurologia I Neurochirurgia Polska, 0
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