Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG84
Identifying novel heterozygous PI4KA variants in fetal abnormalities.
Cheng C et al.
Bmc Medical Genomics, 2025
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F et al.
Journal of Clinical Immunology, 2024
A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression.
Zhang K et al.
Frontiers in Immunology, 2022
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter CG et al.
Brain : a Journal of Neurology, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E et al.
Brain : a Journal of Neurology, 2021
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
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