Associated Papers
Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.
Chen B et al.
Journal of Neurology, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Nakamura Y et al.
Brain : a Journal of Neurology, 2024
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Abdel-Hamid MS et al.
Clinical Genetics, 2024
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease.
Burnyte B et al.
Neurology. Genetics, 2023
Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration.
Masih S et al.
Molecular Syndromology, 2021
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