Associated Papers
Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.
Khorrami M et al.
Journal of Molecular Neuroscience : Mn, 2021
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
Astrocytes are central in the pathomechanisms of vanishing white matter.
Dooves S et al.
The Journal of Clinical Investigation, 2016
Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells.
Sekine Y et al.
Plos One, 2016
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
van der Knaap MS et al.
American Journal of Human Genetics, 2003
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