Sebahattin Çirak

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

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Lia Abbasi‐Moheb, Sara Mertel, Melanie Gonsior et al. · The American Journal of Human Genetics · 2012 · 269 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

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

Tobias Willer, Hane Lee, Mark Lommel et al. · Nature Genetics · 2012 · 237 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +6

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 236 citations · Full text