Associated Papers
Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.
Albacete MAP et al.
Neuroradiology, 2024
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
Terumitsu-Tsujita M et al.
Journal of Neurochemistry, 2020
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
Trimouille A et al.
Acta Neuropathologica Communications, 2020
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Vanishing white matter disease with mutations in EIF2B5 gene.
Sharma S et al.
Indian Journal of Pediatrics, 2015
A point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression.
Marom L et al.
Plos One, 2011
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
Horzinski L et al.
Bmc Neurology, 2010
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