Rita Barresi

Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

Daniel E. Michele, Rita Barresi, Motoi Kanagawa et al. · Nature · 2002 · 798 citations

Life Sciences, Biochemistry, Molecular Biology +14

Disruption of the Sarcoglycan–Sarcospan Complex in Vascular Smooth Muscle

Ramón Mauricio Coral‐Vázquez, Ronald D. Cohn, Steven A. Moore et al. · Cell · 1999 · 374 citations · Full text

Life Sciences, Biochemistry, Cell Biology +9

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

Anna Rajab, Volker Straub, Liza McCann et al. · PLoS Genetics · 2010 · 238 citations · Full text

Medicine, Cardiology, Genetics +17

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sárközy, Nuria Muelas et al. · Brain · 2010 · 225 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer, Hannah R. Elliott, Helen Griffin et al. · Brain · 2012 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +15