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
Vanishing white matter: deregulated integrated stress response as therapy target.
Abbink TEM et al.
Annals of Clinical and Translational Neurology, 2019
31402619 (PubMed )
Supplement: ACN3-6-1407-s006.xlsx › Blad1
Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
Tucker EJ et al.
European Journal of Human Genetics : Ejhg, 2018
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
Vanishing white matter disease: a review with focus on its genetics.
Pronk JC et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
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