Published in Nat Genet on January 01, 2001
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Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration. Proc Natl Acad Sci U S A (2013) 0.92
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Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy. Proc Natl Acad Sci U S A (2013) 0.91
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. Mol Vis (2007) 0.90
Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice. J Lipid Res (2011) 0.89
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Drug delivery to posterior intraocular tissues: third Annual ARVO/Pfizer Ophthalmics Research Institute Conference. Invest Ophthalmol Vis Sci (2008) 0.86
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Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. Mol Vis (2008) 0.85
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease. Mol Vis (2009) 0.84
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Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. J Biol Chem (2013) 0.83
A role for ELOVL4 in the mouse meibomian gland and sebocyte cell biology. Invest Ophthalmol Vis Sci (2014) 0.82
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. Mol Vis (2008) 0.82
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. J Inherit Metab Dis (2014) 0.82
Deficiency of a retinal dystrophy protein ACBD5 impairs peroxisomal β-oxidation of very-long-chain fatty acids. J Biol Chem (2016) 0.82
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis. PLoS One (2015) 0.82
Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration. Invest Ophthalmol Vis Sci (2010) 0.82
Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks. Invest Ophthalmol Vis Sci (2014) 0.82
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Endoplasmic reticulum microenvironment and conserved histidines govern ELOVL4 fatty acid elongase activity. J Lipid Res (2014) 0.81
Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3). Invest Ophthalmol Vis Sci (2009) 0.81
Effect of reduced retinal VLC-PUFA on rod and cone photoreceptors. Invest Ophthalmol Vis Sci (2014) 0.81
Role of Elovl4 protein in the biosynthesis of docosahexaenoic acid. Adv Exp Med Biol (2010) 0.81
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med (2014) 0.80
Retinal morphological and functional changes in an animal model of retinitis pigmentosa. Vis Neurosci (2013) 0.79
Clinical applications of fundus autofluorescence in retinal disease. Int J Retina Vitreous (2016) 0.78
Recent advances in understanding ichthyosis pathogenesis. F1000Res (2016) 0.78
Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease. Doc Ophthalmol (2001) 0.78
Very long chain polyunsaturated fatty acids and rod cell structure and function. Adv Exp Med Biol (2014) 0.78
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease. Transl Vis Sci Technol (2016) 0.78
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity. BMC Med Genet (2014) 0.78
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