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ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
J Lipid Res. 2023 Jan;64(1):100317. doi: 10.1016/j.jlr.2022.100317. Epub 2022 Dec 1.
J Lipid Res. 2023.
PMID: 36464075
Free PMC article.
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Gyening YK, Boris K, Cyril M, Brush RS, Nassogne MC, Agbaga MP.
Gyening YK, et al.
Acta Neuropathol Commun. 2023 Aug 11;11(1):131. doi: 10.1186/s40478-023-01628-4.
Acta Neuropathol Commun. 2023.
PMID: 37568198
Free PMC article.
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