Associated Papers
Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.
Xiao P et al.
Frontiers in Genetics, 2025
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J et al.
Brain : a Journal of Neurology, 2024
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J et al.
Biorxiv : the Preprint Server for Biology, 2023
Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.
He J et al.
Frontiers in Genetics, 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Oliver McFarlane syndrome: two new cases and a review of the literature.
Lisbjerg K et al.
Ophthalmic Genetics, 2021
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Wu S et al.
Experimental Eye Research, 2021
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
Zheng R et al.
Molecular Medicine Reports, 2018
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB et al.
Journal of Medical Genetics, 2015
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
Kmoch S et al.
Nature Communications, 2015
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