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, +22

Nature Medicine

PhysiologyIres ResultsDegenerative DiseaseDmd Exon 5Cell Biology +1

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

Marcella Neri, Rachele Rossi, Cecilia Trabanelli, +51

Frontiers in Genetics

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, +18

BMC Genomics

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, +18

BMC Medical Genetics

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, +10

PLoS ONE

Dmd LncrnasControl TranscriptionSystems BiologyMolecular PhysiologyDmd Gene +12

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

Monika Hiller, Maria Sofia Falzarano, Iker García, +15

PLoS ONE

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

C. Scotton, Matteo Bovolenta, Elena Schwartz, +38

Journal of Cell Science

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype

Maria Sofia Falzarano, Domenico D’Amario, A. Siracusano, +12

Human Gene Therapy

Regenerative MedicineUrine Stem CellsDevelopmental BiologyCell SpecializationMedicine +13

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

Matteo Bovolenta, C. Scotton, Maria Sofia Falzarano, +2

Human Mutation

EngineeringGeneticsMolecular BiologyTranscriptomics TechnologyExtracellular Microvesicles +19

1-Methyl and 1-(2-hydroxyalkyl)-5-(3-alkyl/cycloalkyl/phenyl/naphthylureido)-1H-pyrazole-4-carboxylic acid ethyl esters as potent human neutrophil chemotaxis inhibitors

Olga Bruno, Chiara Brullo, Francesco Bondavalli, +8

Bioorganic & Medicinal Chemistry

Medicinal ChemistryBiochemistryMedicineNatural SciencesPharmacological Agent +6