Associated Papers
Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review.
Thuppanattumadam Ananthasubramanian S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.
Albacete MAP et al.
Neuroradiology, 2024
Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report.
Escobar-Pacheco M et al.
Cureus, 2024
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C et al.
Journal of Neurology, 2023
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
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
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
Ovarioleukodystrophy due to EIF2B5 mutations.
Ibitoye RT et al.
Practical Neurology, 2016
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Carra-Dalliere C et al.
Revue Neurologique, 2011
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Liu R et al.
Human Mutation, 2011
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.
Leng X et al.
Journal of Human Genetics, 2011
Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.
Imam I et al.
Bmj Case Reports, 2011
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
Labauge P et al.
Brain : a Journal of Neurology, 2009
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.
Peter L et al.
European Journal of Neurology, 2008
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
Richardson JP et al.
Molecular and Cellular Biology, 2004
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA et al.
Journal of Child Neurology, 2003
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA et al.
Nature Genetics, 2001
[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy].
Esmer C et al.
Boletin Medico Del Hospital Infantil De Mexico, 0
LEUKOENCEPHALOPATHY WITH EVANESCENT WHITE MATTER: A CASE REPORT.
Porciuncula R et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 0