The muscular dystrophies are rare orphan diseases, characterized by progressive muscle
weakness: the most common and well known is Duchenne muscular dystrophy which affects …

Recent years have seen tremendous progress towards therapy of many previously incurable
neuromuscular diseases. This new context has acted as a driving force for the development …

Biomarkers for monitoring of disease progression and response to therapy are lacking for
muscle diseases such as Duchenne muscular dystrophy. Noninvasive in vivo molecular …

Objective The aim of this study was to describe Duchenne muscular dystrophy (DMD)
disease progression in the lower extremity muscles over 12 months using quantitative …

Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (=
merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin …

Abstract This 48-week, randomized, placebo-controlled phase 3 study (DMD114044;
NCT01254019) evaluated efficacy and safety of subcutaneous drisapersen 6 mg/kg/week in …

Objective We studied the potential of quantitative MRI (qMRI) as a surrogate endpoint in
Duchenne muscular dystrophy by assessing the additive predictive value of vastus lateralis …

There is an unmet need to identify biomarkers sensitive to change in rare, slowly
progressive neuromuscular diseases. Quantitative magnetic resonance imaging (MRI) of …

Background and objective Dysferlinopathies are a group of muscle disorders caused by
mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern …

Objective To investigate the potential of lower extremity magnetic resonance (MR)
biomarkers to serve as endpoints in clinical trials of therapeutics for Duchenne muscular …