Associated Papers
Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report.
Escobar-Pacheco M et al.
Cureus, 2024
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
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Wortham NC et al.
Bmc Medical Genetics, 2015
Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.
Ding XQ et al.
Journal of Magnetic Resonance Imaging : Jmri, 2012
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
The spectrum of mutations for the diagnosis of vanishing white matter disease.
Scali O et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A et al.
Human Mutation, 2005
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