Identification of a novel missense mutation of the SMN T gene in two siblings with spinal muscular atrophy

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

Correlation between severity and SMN protein level in spinal muscular atrophy

Suzie Lefebvre, Philippe Burlet, Qing Liu et al. · Nature Genetics · 1997 · 1.1K citations

Medicine, Neurology, Neuroscience +11

The survival motor neuron protein in spinal muscular atrophy

Daniel D. Coovert · Human Molecular Genetics · 1997 · 712 citations

Medicine, Neurology, Neuroscience +12

The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP Biogenesis

Utz Fischer, Qing Liu, Gideon Dreyfuss · Cell · 1997 · 648 citations · Full text

Medicine, Molecular Biology, Neuroscience +12

The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP Proteins

Qing Liu, Utz Fischer, Fan Wang et al. · Cell · 1997 · 642 citations · Full text

Life Sciences, Genetics, Molecular Biology +15