Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4

Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

Jocelyne Magré, Marc Délepine, Eliane Khallouf et al. · Nature Genetics · 2001 · 751 citations

Life Sciences, Genetics, Molecular Genetics +9

Molecular Cloning of Caveolin-3, a Novel Member of the Caveolin Gene Family Expressed Predominantly in Muscle

ZhaoLan Tang, Philipp E. Scherer, Takashi Okamoto et al. · Journal of Biological Chemistry · 1996 · 733 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long-QT Syndrome

Matteo Vatta, Michael J. Ackerman, Bin Ye et al. · Circulation · 2006 · 553 citations · Full text

Life Sciences, Cardiology, Genetics +17

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34

Anil K. Agarwal, Elif Arioǧlu, Salomé de Almeida et al. · Nature Genetics · 2002 · 518 citations

Life Sciences, Genetics, Molecular Genetics +6

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Yukiko Hayashi, Chie Matsuda, Megumu Ogawa et al. · Journal of Clinical Investigation · 2009 · 393 citations · Full text

Medicine, Biochemistry, Molecular Genetics +15