Associated Papers
Spinocerebellar Ataxia Type 34: ELOVL4 Recurrent Mutation in a Different Family.
Makhoul K et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Emerging insights into the function of very long chain fatty acids at cerebellar synapses.
Agbaga MP et al.
Neural Regeneration Research, 2025
The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model.
Fessler JL et al.
Cerebellum (london, England), 2024
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Nishide M et al.
Cerebellum (london, England), 2024
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
Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34.
Tamura Y et al.
Molecular and Cellular Biology, 2023
ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
Gyening YK et al.
Journal of Lipid Research, 2023
Hot Cross Bun Sign in Progressive Ataxia with ELOVL4 Mutation-Case Report.
Moreno-Escobar M et al.
Movement Disorders Clinical Practice, 2022
Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study.
Ozaki K et al.
Acta Neuropathologica Communications, 2021
W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34.
Nagaraja RY et al.
Molecular Neurobiology, 2021
Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.
Haeri G et al.
Movement Disorders Clinical Practice, 2021
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
The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
Agbaga MP et al.
Molecular Neurobiology, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.
Xiao C et al.
Neurology. Genetics, 2019
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019