M. Bovolenta

发表

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts.

F. Bernardi, M. Pinotti, A. Branchini, 2019, Biochimica et biophysica acta. Gene regulatory mechanisms.

Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair

A. Hovnanian, A. Izmiryan, F. Mavilio, 2018, Molecular therapy. Nucleic acids.

Transcriptional behavior of DMD gene duplications in DMD/BMD males

E. Bertini, M. Pane, E. Mercuri, 2009, Human mutation.

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

M. Uhlén, C. Szigyarto, R. Weiss, 2014, Nature Medicine.

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.

A. Ferlini, E. Pegoraro, P. Bonaldo, 2012, Human gene therapy.

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

F. Muntoni, M. Falzarano, A. Ferlini, 2008, BMC Genomics.

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

E. Bertini, M. Pane, E. Mercuri, 2012, BMC Medical Genetics.

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

F. Muntoni, C. Rapezzi, A. Ferlini, 2012, BMC Medical Genetics.

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.

S. Campaner, F. Bernardi, M. Pinotti, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Synthesis and Exon-Skipping Properties of a 3′-Ursodeoxycholic Acid-Conjugated Oligonucleotide Targeting DMD Pre-mRNA: Pre-Synthetic versus Post-Synthetic Approach

K. Mamchaoui, D. Perrone, E. Marchesi, 2021, Molecules.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

M. Falzarano, H. Osman, A. Ferlini, 2017, Biochimica et biophysica acta. Gene regulatory mechanisms.

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

M. Falzarano, A. Ferlini, F. Gualandi, 2012, Human mutation.

Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization

F. Gualandi, P. Rimessi, M. Bovolenta, 2010, Clinical genetics.

Antisense Oligonucleotides Conjugated with Lipophilic Compounds: Synthesis and In Vitro Evaluation of Exon Skipping in Duchenne Muscular Dystrophy

R. Cortesi, P. Rimessi, D. Perrone, 2022, International journal of molecular sciences.

Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings.

R. Ferrari, P. Pinton, C. Giorgi, 2016, International journal of cardiology.

Macrophages: A minimally invasive tool for monitoring collagen VI myopathies

P. Sabatelli, L. Merlini, F. Gualandi, 2011, Muscle & nerve.

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-related myopathies

E. Bertini, E. Mercuri, A. Ferlini, 2010, BMC Medical Genetics.

Autosomal recessive Bethlem myopathy

E. Mercuri, A. Ferlini, S. Messina, 2009, Neurology.

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

M. Falzarano, A. Ferlini, G. Perini, 2012, PloS one.

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.

Luciano Merlini, Paola Braghetta, Alessandra Ferlini, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients.

L. Galluzzi, R. Ferrari, P. Pinton, 2021, Cell reports.

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

F. Salvi, A. Yuryev, A. Ferlini, 2010, BMC Medical Genetics.

Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System

K. Mamchaoui, V. Mouly, F. Bernardi, 2017, Neuromuscular Disorders.

Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.

Isabelle Richard, S. Henriques, I. Richard, 2016, Human molecular genetics.

Erratum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice: (Nature Medicine (2014) 20 (992-1000) DOI:10.1038/nm.3628)

M. Uhlén, C. Szigyarto, R. Weiss, 2015 .

Identification and characterization of novel collagen VI non‐canonical splicing mutations causing ullrich congenital muscular dystrophy

E. Bertini, M. Pane, E. Mercuri, 2009, Human mutation.

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

F. Bernardi, M. Pinotti, A. Branchini, 2016, Scientific Reports.

Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy.

C. Rapezzi, A. Ferlini, A. Medici, 2010, Human gene therapy.

Exon skipping‐mediated dystrophin reading frame restoration for small mutations

A. Ferlini, P. Spitali, N. Maraldi, 2009, Human mutation.

C6orf10 Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients

C. Scapoli, F. Salvi, S. Straudi, 2019, Front. Genet..

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

G. Pesole, E. Bertini, K. Bushby, 2016, Journal of Cell Science.

PLC‐β2 monitors the drug‐induced release of differentiation blockade in tumoral myeloid precursors

S. Capitani, S. Miscia, V. Bertagnolo, 2006, Journal of cellular biochemistry.

An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis

G. Malerba, D. Girelli, O. Olivieri, 2014, Thrombosis and Haemostasis.

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

F. Salvi, A. Yuryev, A. Ferlini, 2010, BMC Medical Genetics.

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

M. Falzarano, A. Ferlini, F. Gualandi, 2012, Human mutation.

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. Yuryev, A. Ferlini, M. Neri, 2009 .