Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference14 articles.
1. Aminoacyl-tRNA synthetase-interacting multifunctional proteins (AIMPs): a triad for cellular homeostasis;Park;IUBMB Life,2010
2. MSC p43 required for axonal development in motor neurons;Zhu;PNAS,2009
3. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation;Feinstein;Am. J. Hum. Genet.,2010
4. AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset;Armstrong;Neurogenetics,2014
5. Biallelic loss-of-function variants in AIMP1 cause a rare neurodegenerative disease;Accogli;J Child Neurol,2019
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature;Neuropediatrics;2023-01-18
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