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

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text

Genetics, Gene Characterization, Molecular Genetics +3

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

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

Skeletal Muscle, Medicine, Pathology +7

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 · 994 citations · Full text

Real-time Lightcycler Pcr, Kinesiology, Medicine +6

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 · 917 citations

Spine Care, Primary Care, Medical Treatment +14