An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +6

A single nucleotide in the <i>SMN</i> gene regulates splicing and is responsible for spinal muscular atrophy

Christian L. Lorson, Eric Hahnen, Elliot J. Androphy et al. · Proceedings of the National Academy of Sciences · 1999 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +17

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

U. R. Monani · Human Molecular Genetics · 1999 · 944 citations

Life Sciences, Genetics, Molecular Genetics +12

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

Umrao R. Monani · Human Molecular Genetics · 2000 · 727 citations

Life Sciences, Genetics, Neuroscience +17

Neuroblastoma × spinal cord (NSC) hybrid cell lines resemble developing motor neurons

Neil R. Cashman, Heather D. Durham, Jan Krzysztof Blusztajn et al. · Developmental Dynamics · 1992 · 713 citations

Life Sciences, Neurobiology, Neuroscience +17