Francesco Muntoni

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

Diane Fatkin, Calum A. MacRae, Takeshi Sasaki et al. · New England Journal of Medicine · 1999 · 1.4K citations · Full text

Medicine, Genetics, Molecular Genetics +17

The UK10K project identifies rare variants in health and disease

Josine L. Min, Jie Huang, Yasin Memari et al. · Nature · 2015 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

Matthew R. Taylor, Pamela R. Fain, Gianfranco Sinagra et al. · Journal of the American College of Cardiology · 2003 · 485 citations

Medicine, Cardiology, Molecular Genetics +12