Eleonora Maino

Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism

Dwi U. Kemaladewi, Eleonora Maino, Elzbieta Hyatt et al. · Nature Medicine · 2017 · 93 citations

Developmental Biology, Homology-directed-repair-independent Mechanism, Mendelian Disorder +8

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

Carmelo Milioto, Adriana Malena, Eleonora Maino et al. · Scientific Reports · 2017 · 34 citations · Full text

Targeted genome editing <i>in vivo</i> corrects a <i>Dmd</i> duplication restoring wild‐type dystrophin expression

Eleonora Maino, Daria Wojtal, Sonia L. Evagelou et al. · EMBO Molecular Medicine · 2021 · 31 citations · Full text

A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic <i>Dmd</i> deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy

Tatianna Wai Ying Wong, Abdalla Ahmed, Grace Meijuan Yang et al. · Disease Models & Mechanisms · 2020 · 26 citations · Full text

Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation

Steven Erwood, Reid A. Brewer, Teija M.I. Bily et al. · Genome Research · 2019 · 20 citations · Full text