Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular Atrophy

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

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 novel nuclear structure containing the survival of motor neurons protein.

Q Liu, Gideon Dreyfuss · The EMBO Journal · 1996 · 769 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +11

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

Luca Cartegni, Adrian R. Krainer · Nature Genetics · 2002 · 714 citations

Life Sciences, Genetics, Molecular Biology +12

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

Kevin D. Foust, Xueyong Wang, Vicki L. McGovern et al. · Nature Biotechnology · 2010 · 690 citations · Full text

Medicine, Neurobiology, Neuroscience +10