Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

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

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

Umrao R. Monani · Human Molecular Genetics · 2000 · 727 citations

Life Sciences, Genetics, Neuroscience +17

International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

Theodore L. Munsat, Kay E. Davies · Neuromuscular Disorders · 1992 · 655 citations

Engineering, International Relations, Metrology +1

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Thanh T. Le, Lan T. Pham, Matthew E.R. Butchbach et al. · Human Molecular Genetics · 2005 · 601 citations · Full text

Life Sciences, Genetics, Neuroscience +16