High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

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

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Jerry R. Mendell, Samiah Al-Zaidy, Richard Shell et al. · New England Journal of Medicine · 2017 · 2.3K citations · Full text

Medicine, Genetics, Neurology +16

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Eugenio Mercuri, Basil T. Darras, Claudia A. Chiriboga et al. · New England Journal of Medicine · 2018 · 1.4K citations · Full text

Medicine, Neurology, Neuroscience +17

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

Medicine, Neurology, Neuromuscular Disorders +9

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