| 1 | ELOVL4, SCA34
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| The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
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| Agbaga MP, Stiles MA, Brush RS, Sullivan MT, Machalinski A, Jones KL, Anderson RE, Sherry DM.
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| Mol Neurobiol. Nov;57(11):4735-4753. doi: 10.1007/s12035-020-02052-8. Epub 2020 Aug 11. 2020
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| 2 | ELOVL4, NICHD, SCA34, STGD3
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| Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations
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| Deák F, Anderson RE, Fessler JL, Sherry DM
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| Front Cell Neurosci. Sep 20;13:428. doi: 10.3389/fncel.2019.0042 2019
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| 3 | ELOVL4, SCA34
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| Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
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| Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P.
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| JAMA Neurol 71(4):470-5. doi: 10.1001/jamaneurol.2013.6337.
2014
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