Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.
Morais S et al.
Clinical Genetics, 2025
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
Quental R et al.
Neuropediatrics, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf
Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
Hori I et al.
Brain & Development, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Accogli A et al.
Neurogenetics, 2019
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
Accogli A et al.
Journal of Child Neurology, 2019
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