Exon skipping: a first in class strategy for Duchenne muscular dystrophy

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

(2016) Luca Bello et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

(2016) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells

(2016) Courtney S. Young et al.   Cell Stem Cell

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy

(2016) Volker Straub et al.   LANCET NEUROLOGY

CRISPR-mediated Genome Editing Restores Dystrophin Expression and Function in mdx Mice

(2016) Li Xu et al.   MOLECULAR THERAPY

DMDgenotypes and loss of ambulation in the CINRG Duchenne Natural History Study

(2016) Luca Bello et al.   NEUROLOGY

Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations

(2016) Ignazio Maggio et al.   NUCLEIC ACIDS RESEARCH

Hexose enhances oligonucleotide delivery and exon skipping in dystrophin-deficient mdx mice

(2016) Gang Han et al.   Nature Communications

Efficient Restoration of the Dystrophin Gene Reading Frame and Protein Structure in DMD Myoblasts Using the CinDel Method

(2016) Jean-Paul Iyombe-Engembe et al.   Molecular Therapy-Nucleic Acids

Fructose Promotes Uptake and Activity of Oligonucleotides With Different Chemistries in a Context-dependent Manner in mdx Mice

(2016) Limin Cao et al.   Molecular Therapy-Nucleic Acids

Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study

(2016) Nathalie M. Goemans et al.   PLoS One

Individualized Prediction of Changes in 6-Minute Walk Distance for Patients with Duchenne Muscular Dystrophy

(2016) Nathalie Goemans et al.   PLoS One

An update on RNA-targeting therapies for neuromuscular disorders

(2015) Silvana Jirka et al.   CURRENT OPINION IN NEUROLOGY

Effect of genetic background on the dystrophic phenotype inmdxmice

(2015) William D. Coley et al.   HUMAN MOLECULAR GENETICS

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

(2015) Catherine L. Bladen et al.   HUMAN MUTATION

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development

(2015) Adeline Vulin et al.   NEUROMUSCULAR DISORDERS

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

(2015) C. Long et al.   SCIENCE

In vivo gene editing in dystrophic mouse muscle and muscle stem cells

(2015) M. Tabebordbar et al.   SCIENCE

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

(2015) C. E. Nelson et al.   SCIENCE

Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy

(2015) David G. Ousterout et al.   Nature Communications

Prevention of exercised induced cardiomyopathy following Pip-PMO treatment in dystrophic mdx mice

(2015) Corinne A. Betts et al.   Scientific Reports

Evaluation of 2’-Deoxy-2’-fluoro Antisense Oligonucleotides for Exon Skipping in Duchenne Muscular Dystrophy

(2015) Silvana M G Jirka et al.   Molecular Therapy-Nucleic Acids

Long-Term Efficacy of Systemic Multiexon Skipping Targeting Dystrophin Exons 45–55 With a Cocktail of Vivo-Morpholinos in Mdx52 Mice

(2015) Yusuke Echigoya et al.   Molecular Therapy-Nucleic Acids

Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9

(2015) Hongmei Lisa Li et al.   Stem Cell Reports

Translational and Regulatory Challenges for Exon Skipping Therapies

(2014) Annemieke Aartsma-Rus et al.   HUMAN GENE THERAPY

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

(2014) Thomas Voit et al.   LANCET NEUROLOGY

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

Dystrophin quantification: Biological and translational research implications

(2014) K. Anthony et al.   NEUROLOGY

Bi-specific splice-switching PMO oligonucleotides conjugated via a single peptide active in a mouse model of Duchenne muscular dystrophy

(2014) Fazel Shabanpoor et al.   NUCLEIC ACIDS RESEARCH

A Sensitive, Reproducible and Objective Immunofluorescence Analysis Method of Dystrophin in Individual Fibers in Samples from Patients with Duchenne Muscular Dystrophy

(2014) Chantal Beekman et al.   PLoS One

Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

(2014) Marika Pane et al.   PLoS One

Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA

(2014) C. Long et al.   SCIENCE

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

(2014) Kane L Greer et al.   Molecular Therapy-Nucleic Acids

Eteplirsen for the treatment of Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy

(2013) Anna Mayhew et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

(2013) Craig M. Mcdonald et al.   MUSCLE & NERVE

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

(2013) Marika Pane et al.   NEUROMUSCULAR DISORDERS

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

(2013) Elena Stacy Mazzone et al.   PLoS One

A Chemical View of Oligonucleotides for Exon Skipping and Related Drug Applications

(2013) Peter Järver et al.   Nucleic Acid Therapeutics

Peptide Conjugation of 2′-O-methyl Phosphorothioate Antisense Oligonucleotides Enhances Cardiac Uptake and Exon Skipping in mdx Mice

(2013) Silvana M.G. Jirka et al.   Nucleic Acid Therapeutics

Evidence-based path to newborn screening for duchenne muscular dystrophy

(2012) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Synthetic oligonucleotides recruit ILF2/3 to RNA transcripts to modulate splicing

(2012) Frank Rigo et al.   Nature Chemical Biology

Pip6-PMO, A New Generation of Peptide-oligonucleotide Conjugates With Improved Cardiac Exon Skipping Activity for DMD Treatment

(2012) Corinne Betts et al.   Molecular Therapy-Nucleic Acids

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Pip5 Transduction Peptides Direct High Efficiency Oligonucleotide-mediated Dystrophin Exon Skipping in Heart and Phenotypic Correction in mdx Mice

(2011) HaiFang Yin et al.   MOLECULAR THERAPY

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

(2011) Nathalie M. Goemans et al.   NEW ENGLAND JOURNAL OF MEDICINE

Morpholinos and their peptide conjugates: Therapeutic promise and challenge for Duchenne muscular dystrophy

(2010) Hong M. Moulton et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Functional Rescue of Dystrophin-deficient mdx Mice by a Chimeric Peptide-PMO

(2010) HaiFang Yin et al.   MOLECULAR THERAPY

Antisense-mediated modulation of splicing: Therapeutic implications for Duchenne muscular dystrophy

(2010) Annemieke Aartsma-Rus   RNA Biology

Efficacy of systemic morpholino exon-skipping in duchenne dystrophy dogs

(2009) Toshifumi Yokota et al.   ANNALS OF NEUROLOGY

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

(2009) Annemieke Aartsma-Rus et al.   HUMAN MUTATION

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

(2009) Maria Kinali et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy

(2008) Laura van Vliet et al.   BMC Medical Genetics

Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function

(2008) HaiFang Yin et al.   HUMAN MOLECULAR GENETICS

By-passing the nonsense mutation in the 4CVmouse model of muscular dystrophy by induced exon skipping

(2008) Chalermchai Mitrpant et al.   JOURNAL OF GENE MEDICINE

Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer

(2008) B. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DMDpseudoexon mutations: splicing efficiency, phenotype, and potential therapy

(2007) Olga L. Gurvich et al.   ANNALS OF NEUROLOGY