Maria-Rita Passos-Bueno

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

Elizabeth M. McNally, Maria-Rita Passos-Bueno, Carsten G. Bönnemann et al. · PubMed · 1996 · 157 citations

Medicine, Genetics, Molecular Medicine +11

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

Élise Schaefer, Corinne Collet, David Geneviève et al. · Genetics in Medicine · 2014 · 71 citations · Full text

Life Sciences, Genetics, Molecular Biology +4

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

I. Mahjneh, Maria-Rita Passos-Bueno, Mayana Zatz et al. · Neuromuscular Disorders · 1996 · 50 citations

Life Sciences, Genetics, Molecular Genetics +9

Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region

Maria-Rita Passos-Bueno, Ramaisa Bashir, Eloísa S. Moreira et al. · Genomics · 1995 · 40 citations

Life Sciences, Genetics, Molecular Genetics +8