Maria Sofia Falzarano

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

Nicolas Wein, Adeline Vulin, Maria Sofia Falzarano et al. · Nature Medicine · 2014 · 118 citations · Full text

Medicine, Molecular Medicine, Pathophysiology +4

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Marcella Neri, Rachele Rossi, Cecilia Trabanelli et al. · Frontiers in Genetics · 2020 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Simona Brioschi, Francesca Gualandi, C. Scotton et al. · BMC Medical Genetics · 2012 · 79 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Matteo Bovolenta, Marcella Neri, Sergio Fini et al. · BMC Genomics · 2008 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms

Matteo Bovolenta, Daniela Erriquez, Emanuele Valli et al. · PLoS ONE · 2012 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17