Associated Papers
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 2025
Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.
Shen Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease.
Boeing A et al.
Stem Cell Research, 2023
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Berling E et al.
European Journal of Neurology, 2023
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Pradhan BS et al.
International Journal of Molecular Sciences, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Magri F et al.
Muscle & Nerve, 2017
Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.
Chen J et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
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
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease.
Sundblom J et al.
Journal of Anesthesia, 2013
Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion.
Piccolo G et al.
Muscle & Nerve, 2011
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
Sundblom J et al.
Muscle & Nerve, 2010
Caveolinopathies: from the biology of caveolin-3 to human diseases.
Gazzerro E et al.
European Journal of Human Genetics : Ejhg, 2010
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Catteruccia M et al.
Neuromuscular Disorders : Nmd, 2009
Muscular dystrophy associated mutations in caveolin-1 induce neurotransmission and locomotion defects in Caenorhabditis elegans.
Parker S et al.
Invertebrate Neuroscience : In, 2007
Molecular and muscle pathology in a series of caveolinopathy patients.
Fulizio L et al.
Human Mutation, 2005
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
Fee DB et al.
Muscle & Nerve, 2004
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.
Sotgia F et al.
American Journal of Physiology. Cell Physiology, 2003
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
Figarella-Branger D et al.
Neurology, 2003
Mutations in the caveolin-3 gene: When are they pathogenic?
de Paula F et al.
American Journal of Medical Genetics, 2001
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
Herrmann R et al.
Human Molecular Genetics, 2000
Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological association.
Ibarretxe D et al.
Journal of Clinical Lipidology, 0