• A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia
• A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report
• A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34
• Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
• Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans
• ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis
• ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function
• Erythrokeratodermia variabilis associated with cerebral ataxia in a 3-year-old child
• Erythrokeratodermia with ataxia
• Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia
• Familial syndrome of variable erythrokeratodermia associated with progressive encephalopathy
• Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes
• Novel <em>ELOVL4</em> mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)
• Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort
• Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family
• SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders
• Synapse-Specific Defects in Synaptic Transmission in the Cerebellum of W246G Mutant ELOVL4 Rats-a Model of Human SCA34
• Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34
• Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4