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
Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.
He J et al.
Frontiers in Genetics, 2022
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Emekli AS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
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