Associated Papers
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.
Morais S et al.
Clinical Genetics, 2025
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
Hori I et al.
Brain & Development, 2021
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
Gupta S et al.
European Journal of Medical Genetics, 2020
Rare Neurologic Disease-Associated Mutations of AIMP1 are Related with Inhibitory Neuronal Differentiation Which is Reversed by Ibuprofen.
Takeuchi Y et al.
Medicines (basel, Switzerland), 2020
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
AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N-Acetylaspartic Acid and Secondary Mitochondrial Abnormalities.
Khan A et al.
Child Neurology Open, 2019
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.
Iqbal Z et al.
European Journal of Human Genetics : Ejhg, 2016
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
Armstrong L et al.
Neurogenetics, 2014
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0
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