Concepedia

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías, Francesca March, Adoración Venceslá, Francisco Javier Álvarez Rodríguez, Elena Aller, Raquel M. Fernández, Salud Borrego, José M. Millán,

Neuromuscular Disorders · 2018 · 506 citations · 30 references

DOI

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References

30

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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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 et al. · The Lancet · 2016 · 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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