Maria Antonietta Melis

Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy

Francesco Muntoni, Milena Cau, Antonello Ganau et al. · New England Journal of Medicine · 1993 · 415 citations · Full text

Medicine, Genetics, Molecular Genetics +16

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

Maria Antonietta Melis, M. Cau, Rita Congiu et al. · Haematologica · 2008 · 186 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

Francesco Muntoni, Andrea Di Lenarda, Maurizio Porcu et al. · Heart · 1997 · 87 citations · Full text

Medicine, Cardiology, Genetics +11

H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.

Maria Antonietta Melis, Milena Cau, Federica Deidda et al. · PubMed · 2002 · 84 citations

Medicine, Genetics, Molecular Genetics +17

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

Heather J. McCrea, Summer Paradise, Livia Tomasini et al. · Biochemical and Biophysical Research Communications · 2008 · 67 citations

Life Sciences, Molecular Biology, Molecular Genetics +4