Thomas Voït

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

Ataluren treatment of patients with nonsense mutation dystrophinopathy

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

De novo <i>INF2</i> mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Quantitative NMR 1H imaging and 31P spectroscopy evaluation of locoregional high venous pressure rAAV8-U7-ESE6-ESE8 exon-skipping therapy in the GRMD