F. Dagna Bricarelli

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Robert S. Wildin, Fred Ramsdell, Jane Peake et al. · Nature Genetics · 2001 · 1.9K citations

Medicine, Endocrinology, Pediatrics +17

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Thomas Wagner, Jutta Wirth, Jobst Meyer et al. · Cell · 1994 · 1.6K citations

Life Sciences, Genetics, Molecular Genetics +15

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Life Sciences, Genetics, Molecular Genetics +7

Spectrum of<i>SCN1A</i>mutations in severe myoclonic epilepsy of infancy

Rima Nabbout, Elena Di Gennaro, Bernardo Dalla Bernardina et al. · Neurology · 2003 · 245 citations

Life Sciences, Genetics, Molecular Genetics +17

Caveolin-3 Directly Interacts with the C-terminal Tail of β-Dystroglycan

Federica Sotgia, Jean Kyung Lee, Kallol Das et al. · Journal of Biological Chemistry · 2000 · 203 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +11