Associated Papers
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Wijaya YOS et al.
Brain & Development, 2021
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.
Takarada T et al.
Brain & Development, 2017
Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.
Yamada H et al.
Pediatric Neurology, 2015
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