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Duchenne Muscular Dystrophy: From Diagnosis to Therapy

Molecules, 2015-10, Vol.20 (10), p.18168-18184

2015

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Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

Molecules (Basel, Switzerland), 2017-04, Vol.22 (4), p.563

2017

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

BMC genomics, 2008-11, Vol.9 (1), p.572-572, Article 572

2008

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

BMC medical genetics, 2012-08, Vol.13 (1), p.73-73, Article 73

2012

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The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms

PloS one, 2012-09, Vol.7 (9), p.e45328-e45328

2012

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Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy

Journal of clinical medicine, 2021-02, Vol.10 (4), p.820

2021

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Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature

Journal of clinical medicine, 2019-05, Vol.8 (5), p.627

2019

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Tracers for Cardiac Imaging: Targeting the Future of Viable Myocardium

Pharmaceutics, 2023-05, Vol.15 (5), p.1532

2023

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Trabecular bone score assessed by dual-energy X ray absorption predicts vertebral fractures in HIV infected young adults

Bone Reports, 2024-09, Vol.22, p.101797, Article 101797

2024

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RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

HGG advances, 2022-01, Vol.3 (1), p.100054-100054, Article 100054

2022

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Intramedullary Spinal Cord Metastases from Differentiated Thyroid Cancer, a Case Report

Life (Basel, Switzerland), 2022-06, Vol.12 (6), p.863

2022

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mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies

Scientific reports, 2023-09, Vol.13 (1), p.15942-15942, Article 15942

2023

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

Frontiers in genetics, 2020-03, Vol.11, p.131-131

2020

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Nanodiagnostics and Nanodelivery Applications in Genetic Alterations

Current pharmaceutical design, 2018-01, Vol.24 (15), p.1717-1726

2018

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

Human gene therapy, 2016-10, Vol.27 (10), p.772-783

2016

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

PloS one, 2018-10, Vol.13 (10), p.e0204485-e0204485

2018

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Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

Frontiers in physiology, 2021-10, Vol.12, p.716471-716471

2021

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

Frontiers in physiology, 2021-07, Vol.12, p.678974-678974

2021

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

Journal of cell science, 2016-04, Vol.129 (8), p.1671-1684

2016

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

Frontiers in genetics, 2019, Vol.9, p.723-723

2019

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2-Phenyl-2,3-dihydro-1H-imidazo[1 ,2-b]pyrazole derivatives : New potent inhibitors of fMLP-induced neutrophil chemotaxis

Bioorganic & medicinal chemistry letters, 2007-07, Vol.17 (13), p.3696-3701

2007

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Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy

Nucleic acid therapeutics, 2014-02, Vol.24 (1), p.87-100

2014

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Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4

Nucleic acid therapeutics, 2021-06, Vol.31 (3), p.201-207

2021

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Duchenne Muscular Dystrophy: From Diagnosis to Therapy

Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

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

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

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

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms

Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy

Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature

Tracers for Cardiac Imaging: Targeting the Future of Viable Myocardium

Trabecular bone score assessed by dual-energy X ray absorption predicts vertebral fractures in HIV infected young adults

RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

Intramedullary Spinal Cord Metastases from Differentiated Thyroid Cancer, a Case Report

mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies

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

Nanodiagnostics and Nanodelivery Applications in Genetic Alterations

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

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

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

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

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

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

2-Phenyl-2,3-dihydro-1H-imidazo[1 ,2-b]pyrazole derivatives : New potent inhibitors of fMLP-induced neutrophil chemotaxis

Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy

Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4

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