Caveolinopathies: from the biology of caveolin-3 to human diseases

Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders

(2009) Isabelle Mercier et al.   LABORATORY INVESTIGATION

Expression of caveolin-3 immunoreactivities in the developing sciatic nerve of the rat

(2009) Ho J. Lee et al.   MUSCLE & NERVE

Substrate uptake and metabolism are preserved in hypertrophic caveolin-3 knockout hearts

(2008) Ayanna S. Augustus et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Limb–girdle muscular dystrophies

(2008) Michela Guglieri et al.   CURRENT OPINION IN NEUROLOGY

Phenotypic variability in a Spanish family with a Caveolin-3 mutation

(2008) Paloma González-Pérez et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

(2008) Monica Traverso et al.   LABORATORY INVESTIGATION

Caveolinopathy – New mutations and additional symptoms

(2008) Ahmed Aboumousa et al.   NEUROMUSCULAR DISORDERS

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

(2007) Michela Guglieri et al.   HUMAN MUTATION