Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

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

Correlation between severity and SMN protein level in spinal muscular atrophy

Suzie Lefebvre, Philippe Burlet, Qing Liu et al. · Nature Genetics · 1997 · 1.1K citations

Medicine, Neurology, Neuroscience +11

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Markus Feldkötter, Verena Schwarzer, Radu Wirth et al. · The American Journal of Human Genetics · 2002 · 1K citations · Full text

Medicine, Molecular Biology, Molecular Genetics +8

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