Concepedia

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

Ivon Cuscó, M. J. Barceló, Ricard Rojas‐García, Isabel Illa, Josep Gámez, Carlos Cervera, Adolf Pou, Guillermo Izquierdo, Montserrat Baiget, Eduardo F. Tizzano

Journal of Neurology · 2005 · 113 citations · 15 references

DOI

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References

15

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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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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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Natalie Roy, Mani S. Mahadevan, Michael D. McLean et al. · Cell · 1995 · 971 citations · Full text

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Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

Lars Brichta · Human Molecular Genetics · 2003 · 382 citations

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Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

Randolf Forkert, Christine Marke, Sabine Rudnik‐Schöneborn et al. · Human Molecular Genetics · 1995 · 286 citations

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