Associated Papers
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F et al.
Molecular Genetics & Genomic Medicine, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Gyening YK et al.
Acta Neuropathologica Communications, 2023
Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.
Yeboah GK et al.
Journal of Lipid Research, 2021
ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.
Hopiavuori BR et al.
Progress in Retinal and Eye Research, 2019
Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.
Deák F et al.
Frontiers in Cellular Neuroscience, 2019
Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.
Agbaga MP
Advances in Experimental Medicine and Biology, 2016
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
Aldahmesh MA et al.
American Journal of Human Genetics, 2011
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