Area of research
Molecular Biology
Research interest
Research interests include Dystrophin, Biology, Duchenne muscular dystrophy, Genetics, Exon skipping, and Exon.
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSC-derived myogenic progenitor cells
Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
Dystrophin involvement in peripheral circadian SRF signalling
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients
Dystrophin regulates peripheral circadian SRF signalling
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of <i>DUX4</i>
NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES
NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES
MUSCLE FUNCTION & HOMEOSTASIS / MOLECULAR THERAPEUTIC APPROACHES
Corrigendum to: “Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression”. [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138–1147.]
DMD – BIOMARKERS & OUTCOME MEASURES
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
P.134Physical and transcriptional characterization of human urinary stem cell populations
P.386Genome and transcriptome analysis of COLVI genes and characterization of a new promising cellular model
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures
Nanodiagnostics and Nanodelivery Applications in Genetic Alterations
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression
COL6A genes transcriptomic by RNAseq and fluidic card tools
Multilevel molecular analysis identifies all dystrophin gene mutations pointing out that DMD is a genetically homogenous disease: repercussions on diagnosis, prevention and therapy
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