Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

(2020) Diane E. Frank et al.   NEUROLOGY

Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy

(2019) Lindsay N. Alfano et al.   MEDICINE

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype

(2018) Richard T. Wang et al.   HUMAN MUTATION

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

(2018) Craig M McDonald et al.   LANCET

Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history

(2018) Harneet Arora et al.   MUSCLE & NERVE

Eteplirsen treatment for Duchenne muscular dystrophy

(2018) Jay S. Charleston et al.   NEUROLOGY

Low-level dystrophin expression attenuating the dystrophinopathy phenotype

(2018) Megan A. Waldrop et al.   NEUROMUSCULAR DISORDERS

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy

(2018) Chantal Beekman et al.   PLoS One

Development of a validated Western blot method for quantification of human dystrophin protein used in phase 2 and 3 clinical trials of eteplirsen for the treatment of Duchenne muscular dystrophy

(2017) F.J. Schnell et al.   NEUROMUSCULAR DISORDERS

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

(2017) Marshall W. Hogarth et al.   Nature Communications

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

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

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

(2016) Alice Todeschini et al.   NEUROMUSCULAR DISORDERS

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessingSPP1andLTBP4variants

(2014) Janneke C van den Bergen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Duchenne and Becker Muscular Dystrophies

(2014) Kevin M. Flanigan   NEUROLOGIC CLINICS

Dystrophin quantification: Biological and translational research implications

(2014) K. Anthony et al.   NEUROLOGY

When a mid-intronic variation of DMD gene creates an ESE site

(2014) Madiha Trabelsi et al.   NEUROMUSCULAR DISORDERS

Eteplirsen for the treatment of Duchenne muscular dystrophy

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

Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice

(2013) Maaike van Putten et al.   FASEB JOURNAL

Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy

(2013) Sang-Jun Na et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

(2013) Jonàs Juan-Mateu et al.   PLoS One

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Biochemical Characterization of Patients With In-Frame or Out-of-FrameDMDDeletions Pertinent to Exon 44 or 45 Skipping

(2013) Karen Anthony et al.   JAMA Neurology

Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch

(2011) Leigh B. Waddell et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION