Kate Bushby

Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

Michelle Eagle, Simon Baudouin, Colin Chandler et al. · Neuromuscular Disorders · 2002 · 1K citations

Medicine, Physiology, Ventilator Management +5

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 · 862 citations · Full text

Medicine, Neurology, Pharmacotherapy +13

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen, David Salgado, Soledad Monges et al. · Human Mutation · 2015 · 744 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 683 citations

Medicine, Genetics, Molecular Genetics +11

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

Fiona Norwood, Chris Harling, Patrick F. Chinnery et al. · Brain · 2009 · 533 citations · Full text

Medicine, Genetics, Pathology +11