Concepedia

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

Richard S. Finkel, Claudia A. Chiriboga, Jiri Vajsar, Jacqueline Montes, Darryl C. De Vivo, Mason Yamashita, Frank Rigo, Gene Hung, Eugene Schneider, Shuting Xia,

The Lancet · 2016 · 1K citations · 28 references

DOI

Concepts

References

28

Identification and characterization of a spinal muscular atrophy-determining gene

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

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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

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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

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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

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Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Ching H. Wang, Richard S. Finkel, Enrico Bertini et al. · Journal of Child Neurology · 2007 · 946 citations

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