M. Cau

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 · 185 citations · Full text

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

Dystrophin Gene Abnormalities, Sporadic Disease, Heart Failure +10

Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families

MA Melis, M. Cau, Francesco Muntoni et al. · European Journal of Paediatric Neurology · 1998 · 65 citations

Serum Creatine Kinase, Urology, Intragenic Deletion +3

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.

Francesco Muntoni, Anna Mateddu, Carlo Cianchetti et al. · Journal of Neurology Neurosurgery & Psychiatry · 1993 · 32 citations · Full text

Muscle Pathology, Urology, Rare Diseases +15

Thalassaemia and Glucose-6-Phosphate Dehydrogenase Screening in 13- to 14-Year-Old Students of the Sardinian Population: Preliminary Findings

Antonio Cao, Rita Congiu, Mc Sollaino et al. · Public Health Genomics · 2008 · 29 citations