Abstract
Objective: To investigate mutations in genes that are potential modifiers of spinal muscular atrophy (SMA) severity. Methods: We performed a hypothesis-based search into the presence of variants in fused in sarcoma (FUS), transactive response DNA-binding protein 43 (TDP-43), plastin 3 (PLS3), and profilin 2 (PFN2) in a cohort of 153
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