Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report.
Escobar-Pacheco M et al.
Cureus, 2024
In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.
Böck D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.
de Almeida RA et al.
Plos One, 2013
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
Huyghe A et al.
Plos One, 2012
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
Horzinski L et al.
Plos One, 2009
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
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.
Fogli A et al.
Bmc Women's Health, 2004
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
Fogli A et al.
European Journal of Human Genetics : Ejhg, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A et al.
Neurology, 2004
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