Population screening and cascade testing for carriers of SMA

Identification and characterization of a spinal muscular atrophy-determining gene

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

Life Sciences, Molecular Biology, Molecular Genetics +6

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

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

Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

Patricia McAndrew, D. Williams Parsons, Louise R. Simard et al. · The American Journal of Human Genetics · 1997 · 533 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

Tsuyoshi Kashima, James L. Manley · Nature Genetics · 2003 · 526 citations

Life Sciences, Genetics, Molecular Biology +12