Associated Papers
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.
Shambhavi A et al.
Indian Journal of Pediatrics, 2024
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Westenberger A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature.
Almuqbil M et al.
Clinical Case Reports, 2022
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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