María Eugenia Foncuberta

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen, David Salgado, Soledad Monges et al. · Human Mutation · 2015 · 717 citations · Full text

Dmd Mutations, Trial Planning, Engineering +12

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Zaïda Koeks, Catherine L. Bladen, David Salgado et al. · Journal of Neuromuscular Diseases · 2017 · 171 citations · Full text

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez et al. · PLoS ONE · 2013 · 55 citations · Full text

Genetics, Molecular Biology, Pathology +17

Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population

Luis Pablo Gravina, María Eugenia Foncuberta, Rosaura Caron Estrada et al. · International Journal of Pediatric Otorhinolaryngology · 2007 · 33 citations

Carrier Frequency, Allelic Variant, A1555g Deafness Mutations +10

Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome

M Torrado, María Eugenia Foncuberta, M.F. de Castro Perez et al. · PEDIATRICS · 2013 · 30 citations