| Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice N Wein, A Vulin, MS Falzarano, CAK Szigyarto, B Maiti, A Findlay, ... Nature medicine 20 (9), 992-1000, 2014 | 130 | 2014 |
| Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse P Rimessi, P Sabatelli, M Fabris, P Braghetta, E Bassi, P Spitali, G Vattemi, ... Molecular Therapy 17 (5), 820-827, 2009 | 93 | 2009 |
| Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype S Brioschi, F Gualandi, C Scotton, A Armaroli, M Bovolenta, MS Falzarano, ... BMC medical genetics 13, 1-15, 2012 | 85 | 2012 |
| A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies M Bovolenta, M Neri, S Fini, M Fabris, C Trabanelli, A Venturoli, E Martoni, ... BMC genomics 9, 1-11, 2008 | 85 | 2008 |
| Autosomal recessive Bethlem myopathy F Gualandi, A Urciuolo, E Martoni, P Sabatelli, S Squarzoni, M Bovolenta, ... Neurology 73 (22), 1883-1891, 2009 | 83 | 2009 |
| Ex vivo COL7A1 correction for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9 and homology-directed repair A Izmiryan, C Ganier, M Bovolenta, A Schmitt, F Mavilio, A Hovnanian Molecular Therapy-Nucleic Acids 12, 554-567, 2018 | 67 | 2018 |
| Correction of the exon 2 duplication in DMD myoblasts by a single CRISPR/Cas9 system A Lattanzi, S Duguez, A Moiani, A Izmiryan, E Barbon, S Martin, ... Molecular Therapy-Nucleic Acids 7, 11-19, 2017 | 65 | 2017 |
| The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms M Bovolenta, D Erriquez, E Valli, S Brioschi, C Scotton, M Neri, ... Public Library of Science 7 (9), e45328, 2012 | 58 | 2012 |
| Exon skipping‐mediated dystrophin reading frame restoration for small mutations P Spitali, P Rimessi, M Fabris, D Perrone, S Falzarano, M Bovolenta, ... Human mutation 30 (11), 1527-1534, 2009 | 52 | 2009 |
| Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI … M Bovolenta, M Neri, E Martoni, A Urciuolo, P Sabatelli, M Fabris, ... BMC medical genetics 11, 1-12, 2010 | 37 | 2010 |
| Identification and characterization of novel collagen VI non‐canonical splicing mutations causing ullrich congenital muscular dystrophy E Martoni, A Urciuolo, P Sabatelli, M Fabris, M Bovolenta, M Neri, ... Human mutation 30 (5), E662-E672, 2009 | 37 | 2009 |
| Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21. 32 (HLA locus) in patients with venous malformations associated with multiple sclerosis A Ferlini, M Bovolenta, M Neri, F Gualandi, A Balboni, A Yuryev, F Salvi, ... BMC medical genetics 11, 1-10, 2010 | 33 | 2010 |
| Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy F Gualandi, E Manzati, P Sabatelli, C Passarelli, M Bovolenta, ... Human gene therapy 23 (12), 1313-1318, 2012 | 32 | 2012 |
| Rapid, comprehensive analysis of the dystrophin transcript by a custom micro‐fluidic exome array M Bovolenta, C Scotton, MS Falzarano, F Gualandi, A Ferlini Human Mutation 33 (3), 572-581, 2012 | 31 | 2012 |
| Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings G Campo, G Morciano, R Pavasini, M Bonora, L Sbano, S Biscaglia, ... International Journal of Cardiology 221, 993-997, 2016 | 30 | 2016 |
| Transcriptional behavior of DMD gene duplications in DMD/BMD males F Gualandi, M Neri, M Bovolenta, E Martoni, P Rimessi, S Fini, P Spitali, ... Human mutation 30 (2), E310-E319, 2009 | 27 | 2009 |
| Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy C Scotton, M Bovolenta, E Schwartz, MS Falzarano, E Martoni, ... Journal of cell science 129 (8), 1671-1684, 2016 | 24 | 2016 |
| Exploring splicing-switching molecules for seckel syndrome therapy D Scalet, D Balestra, S Rohban, M Bovolenta, D Perrone, F Bernardi, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (1), 15-20, 2017 | 23 | 2017 |
| A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients G Morciano, G Pedriali, M Bonora, R Pavasini, E Mikus, S Calvi, ... Cell Reports 35 (2), 2021 | 22 | 2021 |
| The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5'X-linked dilated cardiomyopathy M Neri, E Valli, G Alfano, M Bovolenta, P Spitali, C Rapezzi, F Muntoni, ... BMC Medical Genetics 13, 1-10, 2012 | 22 | 2012 |
