A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

Anthony P. Monaco, Corlee J. Bertelson, Sabina Liechti‐Gallati et al. · Genomics · 1988 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +11

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Alan H. Beggs, Mary B. Moyer, S. Scherpf et al. · PubMed · 1989 · 961 citations

Medicine, Genetics, Molecular Genetics +10

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

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

Alan H. Beggs, FrederickM. Boyce, LouisM. Kunkel · Human Genetics · 1990 · 695 citations

Life Sciences, Genetics, Molecular Genetics +14

[16] Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project

Periannan Senapathy, Marvin B. Shapiro, Nomi L. Harris · Methods in enzymology on CD-ROM/Methods in enzymology · 1990 · 686 citations

Life Sciences, Bioinformatics, Genetics +14