Case of childhood ataxia with central nervous system hypomyelination with a novel mutation in EIF2B3 gene
Author:
Publisher
Medknow
Subject
General Neuroscience,Pediatrics, Perinatology and Child Health
Cited by 7 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. The Coexistence of Two Genetic Astrocytopathies—Megalencephalic Leukoencephalopathy and Vanishing White Matter Disease—in an Indian Child;Neuropediatrics;2023-03-06
2. Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation;Molecular Genetics and Metabolism;2022-08
3. Vanishing White Matter Disease Presenting as Acute Febrile Encephalopathy: Case Report;Journal of Pediatric Neurology;2021-12-07
4. A (dis)integrated stress response: Genetic diseases of eIF2α regulators;WIREs RNA;2021-08-31
5. Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish;Human Molecular Genetics;2021-01-30
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