Different factors underlie mild and severe forms of spinal muscular atrophy
- PMID: 39799967
- PMCID: PMC11788190
- DOI: 10.1093/brain/awaf012
Different factors underlie mild and severe forms of spinal muscular atrophy
Abstract
This scientific commentary refers to ‘The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy’ by Tapken et al. (
Conflict of interest statement
The authors report no competing interests.
Comment on
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The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy.Brain. 2025 Feb 3;148(2):580-596. doi: 10.1093/brain/awae272. Brain. 2025. PMID: 39183150
References
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- Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999;8:1177–1183. - PubMed
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- Bebee TW, Dominguez CE, Chandler DS. Mouse models of SMA: Tools for disease characterization and therapeutic development. Hum Genet. 2012;131:1277–1293. - PubMed
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