Associated Papers
PGAP1-Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature.
Baris S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG67
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
Kettwig M et al.
Bmc Neurology, 2016
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Bosch DG et al.
European Journal of Human Genetics : Ejhg, 2015
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
Williams C et al.
Clinical Genetics, 2015
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
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