Caroline A. Sewry

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

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini et al. · The American Journal of Human Genetics · 2001 · 598 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Duangrurdee Wattanasirichaigoon, Hans H. Goebel, Matthew C. J. Wilce et al. · Nature Genetics · 1999 · 401 citations

Medicine, Genetics, Molecular Genetics +13

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutation in <i>BAG3</i> causes severe dominant childhood muscular dystrophy

Duygu Selcen, Francesco Muntoni, Barbara K. Burton et al. · Annals of Neurology · 2008 · 362 citations · Full text

Medicine, Genetics, Molecular Genetics +17