Associated Papers
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
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.
Doğan M 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
Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.
Tarnutzer AA et al.
Journal of Neurology, 2015
Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
Deik A et al.
Journal of Neurology, 2014
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M et al.
Brain : a Journal of Neurology, 2014
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