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
Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease.
Tian Y et al.
Frontiers in Bioengineering and Biotechnology, 2022
Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.
Liu H et al.
Journal of Ovarian Research, 2020
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Zhang H et al.
Plos One, 2015
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.
Fogli 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
Vanishing white matter disease: the first reported chinese patient.
Wong SS et al.
Journal of Child Neurology, 2008
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
Translation factors: in sickness and in health.
Abbott CM et al.
Trends in Biochemical Sciences, 2004
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA et al.
Journal of Child Neurology, 2003