Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy

Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation

Mark E. Gurney, Haifeng Pu, Arlene Y. Chiu et al. · Science · 1994 · 4.1K citations

Life Sciences, Genetics, Neuroscience +17

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

A single nucleotide in the <i>SMN</i> gene regulates splicing and is responsible for spinal muscular atrophy

Christian L. Lorson, Eric Hahnen, Elliot J. Androphy et al. · Proceedings of the National Academy of Sciences · 1999 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +17

ALS-Linked SOD1 Mutant G85R Mediates Damage to Astrocytes and Promotes Rapidly Progressive Disease with SOD1-Containing Inclusions

Lucie Bruijn, Mark W. Bêcher, Michael K. Lee et al. · Neuron · 1997 · 1.3K citations · Full text

Life Sciences, Neurology, Neuroscience +17

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