Associated Papers
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
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
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
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