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
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Abdel-Hamid MS et al.
Clinical Genetics, 2024
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Grigalionienė K et al.
Orphanet Journal of Rare Diseases, 2023
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease.
Burnyte B et al.
Neurology. Genetics, 2023
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