Article
Characterization of a murine model of SMA.
Neurobiology of disease - 1 Mar 2012
Donnelly Eleanor M, Quach Eric T, Hillery Terence M, Heeke Brenten L, Snyder Brooke R, Handy Chalonda R, O'Connor Deirdre M, Boulis Nicholas M, Federici Thais
Abstract excerpt
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, which is the leading genetic cause of mortality in children. To date no effective treatment exists for SMA. The genetic basis for SMA has been well documented as a mutation in the gene for survival of motor neuron (SMN). Because there is an understanding of which gene needs to be replaced (SMN) and where it needs to be replaced (spinal...
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