Associated Papers
Late-onset vanishing white matter disease: clinical and genotypic insights from the oldest reported patient.
Fonseca  et al.
Bmj Case Reports, 2025
Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report.
Escobar-Pacheco M et al.
Cureus, 2024
A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.
Nourmohammadi P et al.
Journal of Genetics, 2023
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.
Ren Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature.
Kong F et al.
Frontiers in Neurology, 2022
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Slynko I et al.
Molecular Genetics & Genomic Medicine, 2021
33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf
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
Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
Wei C et al.
Bmc Neurology, 2019
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 2017
Ovarioleukodystrophy due to EIF2B5 mutations.
Ibitoye RT et al.
Practical Neurology, 2016
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.
Shimada S et al.
Brain & Development, 2015
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