Stephen Abbs

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

Sebahattin Çirak, Virginia Arechavala‐Gomeza, Michela Guglieri et al. · The Lancet · 2011 · 852 citations · Full text

Exon Skipping, Urology, Duchenne Muscular Dystrophy +4

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

Maria Kinali, Virginia Arechavala‐Gomeza, Lucy Feng et al. · The Lancet Neurology · 2009 · 635 citations · Full text

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 433 citations · Full text

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 272 citations · Full text

Cell Autophagy, Mendelian Disorder, Autoimmune Disease +9

<i>RYR1</i> mutations are a common cause of congenital myopathies with central nuclei

Jo M. Wilmshurst, Suzanne Lillis, Haiyan Zhou et al. · Annals of Neurology · 2010 · 261 citations · Full text