Unravelling the cellular mechanism of spinal muscular atrophy: from gene and modifiers to therapy

Spinal muscular atrophy (SMA) is a common neuromuscular disease characterised by weakness and wasting of muscles. People with the most severe form of the disease are unable to sit or walk and die within the first two years of life. Although the genetics of SMA are well understood, the cellular mechanisms involved are unclear and there is currently no cure. […]

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