Background Thymectomy has been a mainstay in the treatment of myasthenia gravis, but
there is no conclusive evidence of its benefit. We conducted a multicenter, randomized trial …

Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne
muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial …

Background There is an unmet need for treatment options for generalised myasthenia gravis
that are effective, targeted, well tolerated, and can be used in a broad population of patients…

Background The Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving
Prednisone (MGTX) showed that thymectomy combined with prednisone was superior …

Purpose of review Myotonic dystrophy type 2 (DM2) is a rare, progressive multisystem disease
particularly affecting the skeletal muscle. A causal therapy is not yet available; however, …

Double-seronegative myasthenia gravis (dSN-MG, without detectable AChR and MuSK
antibodies) presents a serious gap in MG diagnosis and understanding. Recently, …

Spinal muscular atrophy (SMA) used to be one of the most common genetic causes of infant
mortality. New disease modifying treatments have changed the disease trajectories and …

This 48-week, randomized, placebo-controlled phase 3 study (DMD114044; NCT01254019)
evaluated efficacy and safety of subcutaneous drisapersen 6 mg/kg/week in 186 ambulant …

Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved
for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a …

Background Risdiplam is an oral small molecule approved for the treatment of patients with
spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal …