Rachele Rossi

A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring

Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy

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

Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy

APPLICATION OF NEXT GENERATION TECHNOLOGIES

DMD/BMD - GENETICS

DMD/BMD - GENETICS

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

Codon usage in rare disease genes shows evolution- and phenotype-driven codon bias fingerprints

NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES

MUSCLE FUNCTION & HOMEOSTASIS / MOLECULAR THERAPEUTIC APPROACHES

DMD – BIOMARKERS & OUTCOME MEASURES

Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

WITHDRAWN: Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study

O.11Dystrophin gene codon usage lacks extreme codon bias and shows non-random codon distribution of disease-causing mutations

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

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

COL6A genes transcriptomic by RNAseq and fluidic card tools

POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?

International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify dystrophin mutations by NGS technologies

Multilevel molecular analysis identifies all dystrophin gene mutations pointing out that DMD is a genetically homogenous disease: repercussions on diagnosis, prevention and therapy

Whole genome sequencing in neuromuscular diseases: the UNIFE experience within the neuromics project

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