Walking alone milestone combined reading-frame rule improves early prediction of Duchenne muscular dystrophy

A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the DMD Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis

(2021) Saeed Anwar et al.   Journal of Personalized Medicine

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

(2021) Pablo Beckers et al.   Scientific Reports

Development of a New Quality of Life Measure for Duchenne Muscular Dystrophy Using Mixed Methods

(2021) Philip A. Powell et al.   NEUROLOGY

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up

(2021) Giorgia Coratti et al.   PLoS One

Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping

(2020) Paula R. Clemens et al.   JAMA Neurology

Early developmental milestones in Duchenne muscular dystrophy

(2020) Paula Dommelen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

(2019) Claudia Brogna et al.   PLoS One

Targeting RyR activity boosts antisense exon 44 and 45 skipping in human DMD skeletal or cardiac muscle culture models

(2019) Florian Barthélémy et al.   Molecular Therapy-Nucleic Acids

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Combined Therapies for Duchenne Muscular Dystrophy to Optimize Treatment Efficacy

(2018) Gonzalo Cordova et al.   Frontiers in Genetics

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

(2017) Seena Vengalil et al.   Journal of Clinical Neurology

Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles

(2016) Cécile Peccate et al.   HUMAN MOLECULAR GENETICS

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

(2015) Ruolan Guo et al.   JOURNAL OF HUMAN GENETICS

Motor and Cognitive Delay in Duchenne Muscular Dystrophy: Implication for Early Diagnosis

(2014) Kara T. Mirski et al.   JOURNAL OF PEDIATRICS

MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD

(2013) Juan Yang et al.   BMC Medical Genetics

Growth and psychomotor development of patients with Duchenne muscular dystrophy

(2013) Elisabeth Sarrazin et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   MUSCLE & NERVE

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

(2010) Elena Mazzone et al.   NEUROMUSCULAR DISORDERS

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

(2008) Akanchha Kesari et al.   HUMAN MUTATION