Associated Papers
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ et al.
Genome Medicine, 2023
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C et al.
Journal of Neurology, 2023
The Coexistence of Two Genetic Astrocytopathies-Megalencephalic Leukoencephalopathy and Vanishing White Matter Disease-in an Indian Child.
Das S et al.
Neuropediatrics, 2023
Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter.
Wongkittichote P et al.
Frontiers in Genetics, 2022
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Lee YR et al.
Human Molecular Genetics, 2021
Vanishing white matter disease with different faces.
Güngör G et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020
Vanishing white matter: deregulated integrated stress response as therapy target.
Abbink TEM et al.
Annals of Clinical and Translational Neurology, 2019
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
eIF2B promotes eIF5 dissociation from eIF2*GDP to facilitate guanine nucleotide exchange for translation initiation.
Jennings MD et al.
Genes & Development, 2013
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
[Advances in functional study of EIF2B mutations in leukoencephalopathy with vanishing white matter].
Leng XR et al.
Sheng Li Ke Xue Jin Zhan [progress in Physiology], 2010
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Wu Y et al.
Journal of Human Genetics, 2009
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].
Wu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
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
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
[Clinical observation and long-term follow-up of benign infantile epilepsy].
Liu XY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
van der Knaap MS et al.
Annals of Neurology, 2002