Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification

Normal and altered pre-mRNA processing in the DMD gene

(2017) Sylvie Tuffery-Giraud et al.   HUMAN GENETICS

Eteplirsen in the treatment of Duchenne muscular dystrophy

(2017) Kenji Rowel Lim et al.   Drug Design Development and Therapy

Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy

(2017) Peter Gee et al.   Stem Cells International

The golden retriever model of Duchenne muscular dystrophy

(2017) Joe N. Kornegay   Skeletal Muscle

Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort

(2016) Rebecca J. Willcocks et al.   ANNALS OF NEUROLOGY

Facioscapulohumeral Dystrophy

(2016) Leo H. Wang et al.   Current Neurology and Neuroscience Reports

Muscular dystrophy in a dish: engineered human skeletal muscle mimetics for disease modeling and drug discovery

(2016) Alec S.T. Smith et al.   DRUG DISCOVERY TODAY

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

(2016) Agnieszka Madej-Pilarczyk et al.   FOLIA NEUROPATHOLOGICA

Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy

(2016) Jacqueline N. Robinson-Hamm et al.   HUMAN GENETICS

The importance of genetic diagnosis for Duchenne muscular dystrophy

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

Dystrophin-Deficient Cardiomyopathy

(2016) Forum Kamdar et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

(2016) Robert C. Griggs et al.   NEUROLOGY

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

(2016) Luca Bello et al.   NEUROLOGY

A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy

(2016) Laura Virginia Gatica et al.   NEUROMUSCULAR DISORDERS

Development of digital tissue image analysis solution for muscle biopsies in support of disease-modifying therapies for Duchenne muscular dystrophy

(2016) J. Tinsley et al.   NEUROMUSCULAR DISORDERS

Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy

(2016) David G. Allen et al.   PHYSIOLOGICAL REVIEWS

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies

(2016) Narinder Janghra et al.   PLoS One

Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy

(2016) Thomas Fröhlich et al.   Scientific Reports

Exon skipping therapy for Duchenne muscular dystrophy

(2015) Ryszard Kole et al.   ADVANCED DRUG DELIVERY REVIEWS

The Pathogenesis and Therapy of Muscular Dystrophies

(2015) Simon Guiraud et al.   Annual Review of Genomics and Human Genetics

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

(2015) Vincenzo Nigro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms

(2015) Giovanni Meola et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Improving clinical trial design for Duchenne muscular dystrophy

(2015) Luciano Merlini et al.   BMC Neurology

Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies

(2015) Elisabeth Le Rumeur   Bosnian Journal of Basic Medical Sciences

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies

(2015) Jean K. Mah et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

(2015) Marco Luigetti et al.   CLINICAL NEUROPHYSIOLOGY

Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics

(2015) Anthony Chau et al.   DEVELOPMENTAL DYNAMICS

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

(2015) J. W. McGreevy et al.   Disease Models & Mechanisms

Functional disruption of the dystrophin gene in rhesus monkey using CRISPR/Cas9

(2015) Yongchang Chen et al.   HUMAN MOLECULAR GENETICS

Porcine Models of Muscular Dystrophy

(2015) J. T. Selsby et al.   ILAR JOURNAL

Model Organisms in the Fight against Muscular Dystrophy: Lessons from Drosophila and Zebrafish

(2015) Emilie Plantié et al.   MOLECULES

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

(2015) Maria Falzarano et al.   MOLECULES

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

(2015) Marina Fanin et al.   MUSCLE & NERVE

Prevalence of Duchenne and Becker Muscular Dystrophies in the United States

(2015) P. A. Romitti et al.   PEDIATRICS

Tailored Pig Models for Preclinical Efficacy and Safety Testing of Targeted Therapies

(2015) Nikolai Klymiuk et al.   TOXICOLOGIC PATHOLOGY

Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells

(2015) Emi Shoji et al.   Scientific Reports

Duchenne Muscular Dystrophy Gene Therapy in the Canine Model

(2015) Dongsheng Duan   Human Gene Therapy Clinical Development

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

Duchenne and Becker Muscular Dystrophies

(2014) Kevin M. Flanigan   NEUROLOGIC CLINICS

Dystrophin quantification: Biological and translational research implications

(2014) K. Anthony et al.   NEUROLOGY

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

Characterization of Dystrophin Deficient Rats: A New Model for Duchenne Muscular Dystrophy

(2014) Thibaut Larcher et al.   PLoS One

Microtubule binding distinguishes dystrophin from utrophin

(2014) J. J. Belanto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In vivo single-molecule imaging identifies altered dynamics of calcium channels in dystrophin-mutant C. elegans

(2014) Hong Zhan et al.   Nature Communications

Generation of muscular dystrophy model rats with a CRISPR/Cas system

(2014) Katsuyuki Nakamura et al.   Scientific Reports

From Innate to Adaptive Immune Response in Muscular Dystrophies and Skeletal Muscle Regeneration: The Role of Lymphocytes

(2014) Luca Madaro et al.   Biomed Research International

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

(2013) Nikolai Klymiuk et al.   HUMAN MOLECULAR GENETICS

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

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

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

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

(2013) Elena Stacy Mazzone et al.   PLoS One

Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy

(2013) Irina T. Zaharieva et al.   PLoS One

Functional muscle ischemia in Duchenne and Becker muscular dystrophy

(2013) Gail D. Thomas   Frontiers in Physiology

Effects of Angiotensin-Converting Enzyme Inhibitors and/or Beta Blockers on the Cardiomyopathy in Duchenne Muscular Dystrophy

(2012) Laurence Viollet et al.   AMERICAN JOURNAL OF CARDIOLOGY

Evidence-based path to newborn screening for duchenne muscular dystrophy

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

Zebrafish models flex their muscles to shed light on muscular dystrophies

(2012) J. Berger et al.   Disease Models & Mechanisms

Mental retardation in Duchenne muscular dystrophy

(2012) Flávia Nardes et al.   Jornal de Pediatria

Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens

(2012) L. E. Taylor et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Exon Skipping Quantification by Quantitative Reverse-Transcription Polymerase Chain Reaction in Duchenne Muscular Dystrophy Patients Treated with the Antisense Oligomer Eteplirsen

(2012) Karen Anthony et al.   Human Gene Therapy Methods

Cardiac involvement in Becker muscular dystrophy

(2011) Josef Finsterer et al.   CANADIAN JOURNAL OF CARDIOLOGY

The Dystrophin-associated Protein Complex Maintains Muscle Excitability by Regulating Ca2+-dependent K+(BK) Channel Localization

(2011) Feyza Sancar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evaluation of exon-skipping strategies for Duchenne muscular dystrophy utilizing dystrophin-deficient zebrafish

(2011) Joachim Berger et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study

(2011) E. Mazzone et al.   NEUROLOGY

Muscle histology vs MRI in Duchenne muscular dystrophy

(2011) M. Kinali et al.   NEUROLOGY

Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site

(2011) Maria Grazia D’Angelo et al.   PEDIATRIC NEUROLOGY

Regeneration of Mammalian Skeletal Muscle: Basic Mechanisms and Clinical Implications

(2010) Stefano Ciciliot et al.   CURRENT PHARMACEUTICAL DESIGN

Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology

(2010) Joachim Berger et al.   NEUROMUSCULAR DISORDERS

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

(2010) Virginia Arechavala-Gomeza et al.   NEUROMUSCULAR DISORDERS

A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping

(2010) Gemma L. Walmsley et al.   PLoS One

The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy

(2009) Craig M. McDonald et al.   MUSCLE & NERVE

Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression

(2009) V. Arechavala-Gomeza et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress

(2008) Salvatore Grosso et al.   BRAIN & DEVELOPMENT

Disability and survival in Duchenne muscular dystrophy

(2008) M Kohler et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY