Associated Papers
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.
Safka Brozkova D et al.
Human Genomics, 2026
Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant.
Della Marina A et al.
Journal of Neuropathology and Experimental Neurology, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.
Shambhavi A et al.
Indian Journal of Pediatrics, 2024
Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip.
Zhao X et al.
Frontiers in Genetics, 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
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
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