M. Fabris

University of Ferrara — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index1.0kcitations43works2.02yr avg
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Research Topics

Muscle Physiology and Disorders(24), RNA Research and Splicing(15), RNA modifications and cancer(11), RNA Interference and Gene Delivery(10), Advanced biosensing and bioanalysis techniques(8)

Publications43 total

MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
Biomolecules·2025· 2 citedOpen Access
DMD/BMD - GENETICS
Neuromuscular Disorders·2021
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Human Genetics and Genomics Advances·2021· 12 citedOpen Access
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Frontiers in Genetics·2020· 81 citedOpen Access
Multilevel molecular analysis identifies all dystrophin gene mutations pointing out that DMD is a genetically homogenous disease: repercussions on diagnosis, prevention and therapy
Neuromuscular Disorders·2017
Prevalence of SMN1 gene duplication in different ethnic groups: implication for carrier testing
Institutional Research Information System University of Ferrara (University of Ferrara)·2014
Increased excitability in tat-transgenic mice: Role of tat in HIV-related neurological disorders
Neurobiology of Disease·2013· 40 citedOpen Access
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in<i>mdx</i>Mice
BioMed Research International·2013· 22 citedOpen Access
Pyramiding genes for tolerance to preharvest wheat sprouting by backcrossing.
Americanae (AECID Library)·2013Open Access
Piramidação de genes de resistência à brusone em trigo via retrocruzamento.
Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)·2013Open Access
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms
PLoS ONE·2012· 55 citedOpen Access
T.P.22 Nanoparticles as delivery systems for antisense oligoribonucleotides: Biodistribution studies and definition of the release kinetic in treated mdx mice
Neuromuscular Disorders·2012· 1 cited
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice
Journal of Biomedicine and Biotechnology·2012· 21 citedOpen Access
O.14 Biocompatible nanoparticles as slow-release delivery system of 2′OMePS AON administered both intraperitoneally and orally in the mdx mice: dystrophin rescue and nanoparticles biodistribution
Neuromuscular Disorders·2011
P4.01 ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy
Neuromuscular Disorders·2010
P3.03 Nanoparticles are effective vehicles for systemic delivery of 2′OMePS antisense oligonucleotides in exon skipping-mediated dystrophin restoration
Neuromuscular Disorders·2010
Antisense Modulation of Both Exonic and Intronic Splicing Motifs Induces Skipping of a <i>DMD</i> Pseudo-Exon Responsible for X-Linked Dilated Cardiomyopathy
Human Gene Therapy·2010· 16 citedOpen Access
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
BMC Medical Genetics·2010· 32 citedOpen Access
Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP–AON complexes
Gene Therapy·2009· 46 cited
EM.P.4.03 Extensive sequencing of COL6A genes in a cohort of 65 patients with collagen type VI related myopathies. Focus on splicing mutations causing Ullrich congenital muscular dystrophy
Neuromuscular Disorders·2009
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Frequent Co-authors

Alessandra Ferlini(33), Francesca Gualandi(31), Paola Rimessi(30), Matteo Bovolenta(21), Patrizia Sabatelli(17), Marcella Neri(16), Luciano Merlini(16), E. Martoni(16), Elena Bassi(15), Maria Sofia Falzarano(13), Pietro Spitali(12), Paolo Bonaldo(11), Daniela Perrone(10), Cecilia Trabanelli(9), Antonella Caputo(8), Sofia Falzarano(8), Enrico Bertini(7), Paola Braghetta(7), Katia Sparnacci(7), Michele Laus(7)