The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
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Fiorillo C, et al. Among authors: brolatti n.
Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10.
Neuropathol Appl Neurobiol. 2022.
PMID: 35904184
Free PMC article.