Advances in Dystrophinopathy Diagnosis and Therapy

Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases

(2022) Gaspar Del Rio-Pertuz et al.   Orphanet Journal of Rare Diseases

Glucocorticoids, Cyclosporine, Azathioprine, Chlorambucil, and Mycophenolate in Dogs and Cats

(2022) Katrina R. Viviano   VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

(2022) Michela Guglieri et al.   JAMA Neurology

Duchenne Muscular Dystrophy Gene therapy

(2022) Fawzy A. Saad et al.   CURRENT GENE THERAPY

Biological and genetic therapies for the treatment of Duchenne muscular dystrophy

(2022) Harry Wilton-Clark et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Early prophylaxis of cardiomyopathy with beta-blockers and angiotensin receptor blockers in patients with Duchenne muscular dystrophy

(2022) Heirim Lee et al.   Clinical and Experimental Pediatrics

A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

(2021) Babi R.R. Nallamilli et al.   HUMAN MUTATION

Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks

(2021) Soo Hyun Kim et al.   Taiwanese Journal of Obstetrics & Gynecology

Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing

(2021) F. Chemello et al.   Science Advances

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

(2021) Eun-Woo Park et al.   Children-Basel

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

(2021) María Luisa Guevara‐Fujita et al.   Molecular Genetics & Genomic Medicine

Gene Therapy for Duchenne Muscular Dystrophy

(2021) Nertiyan Elangkovan et al.   Journal of Neuromuscular Diseases

Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients

(2021) Fatima Domenica Elisa De Palma et al.   Diagnostics

Duchenne muscular dystrophy

(2020) Hannah Fox et al.   BMJ-British Medical Journal

EMQN best practice guidelines for genetic testing in dystrophinopathies

(2020) Carl Fratter et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies

(2020) Kenji Rowel Q. Lim et al.   Genes

Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy

(2020) Nicolas J. Abreu et al.   PEDIATRIC PULMONOLOGY

Disruption of a key ligand-H-bond network drives dissociative properties in vamorolone for Duchenne muscular dystrophy treatment

(2020) Xu Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study

(2020) Edward C. Smith et al.   PLOS MEDICINE

Therapeutic developments for Duchenne muscular dystrophy

(2019) Ingrid E. C. Verhaart et al.   Nature Reviews Neurology

Novel insights into the complex architecture of osteoporosis molecular genetics

(2019) Fawzy Ali Saad   Annals of the New York Academy of Sciences

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

(2019) Eric P. Hoffman et al.   NEUROLOGY

Proteomic and cell biological profiling of the renal phenotype of the mdx-4cv mouse model of Duchenne muscular dystrophy

(2019) Paul Dowling et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Muscular dystrophies

(2019) Eugenio Mercuri et al.   LANCET

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

(2019) Miguel Angel Alcántara-Ortigoza et al.   Genes

Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy

(2019) Erik Landfeldt et al.   MUSCLE & NERVE

Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation

(2018) Reza Ebrahimzadeh-Vesal et al.   GENE

A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene

(2018) Chang Liu et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Fractures And Bone Health Monitoring In Boys With Duchenne Muscular Dystrophy Managed Within The Scottish Muscle Network

(2018) Shuko Joseph et al.   NEUROMUSCULAR DISORDERS

Comprehensive map of age-associated splicing changes across human tissues and their contributions to age-associated diseases

(2018) Kun Wang et al.   Scientific Reports

Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic mechanism that competes with translation termination

(2017) H M Chowdhury et al.   HUMAN MOLECULAR GENETICS

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

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

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

(2017) Anne-Laure Bougé et al.   Scientific Reports

Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders

(2016) Vincenzo Nigro et al.   CURRENT OPINION IN NEUROLOGY

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies

(2016) Melissa Alame et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

(2016) Luca Bello et al.   Scientific Reports

Contemporary Cardiac Issues in Duchenne Muscular Dystrophy: Table.

(2015) Elizabeth M. McNally et al.   CIRCULATION

Dystrophinopathies

(2015) John Brandsema et al.   SEMINARS IN NEUROLOGY

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

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

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

(2015) Andrea Barp et al.   PLoS One

Current Treatment and Management of Dystrophinopathies

(2014) Nathalie Goemans et al.   Current Treatment Options in Neurology

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

(2013) Beatriz Puisac et al.   MOLECULAR GENETICS AND METABOLISM

AMPK Activation Stimulates Autophagy and Ameliorates Muscular Dystrophy in the mdx Mouse Diaphragm

(2012) Marion Pauly et al.   AMERICAN JOURNAL OF PATHOLOGY

Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method

(2012) Ivona Sansović et al.   BIOCHEMICAL GENETICS

Glucocorticoid Analogues: Potential Therapeutic Alternatives for Treating Inflammatory Muscle Diseases

(2012) Erica K.M. Reeves et al.   Endocrine Metabolic & Immune Disorders-Drug Targets

Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging

(2011) Ingrid E.C. Verhaart et al.   NEUROMUSCULAR DISORDERS

A Diagnostic Algorithm for Metabolic Myopathies

(2010) Andres Berardo et al.   Current Neurology and Neuroscience Reports

Debio-025 is more effective than prednisone in reducing muscular pathology in mdx mice

(2010) Erin R. Wissing et al.   NEUROMUSCULAR DISORDERS

Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them

(2009) Yupeng Wu et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry

(2008) David M. Connuck et al.   AMERICAN HEART JOURNAL

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

(2008) Matteo Bovolenta et al.   BMC GENOMICS

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

(2008) Yoann Saillour et al.   HUMAN MUTATION

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

(2008) Verónica Ferreiro et al.   MUSCLE & NERVE

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

(2008) Albena Todorova et al.   NEUROMUSCULAR DISORDERS