Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Patatin-Like Phospholipase Domain-Containing Protein 8 Mutation Associated with Gonadal Dysgenesis, Cerebellar Ataxia, and Peripheral Neuropathy in an Indian Family.
Saluja A et al.
Annals of Indian Academy of Neurology, 2025
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
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
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.
Shukla A et al.
American Journal of Medical Genetics. Part A, 2018
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