Associated Papers
Case Report: New genetic variant and widely different phenotypes observed in twins with Vanishing White Matter disease.
Oron-Lexner E et al.
Frontiers in Pediatrics, 2025
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
Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants.
Gui M et al.
Bmc Neurology, 2024
The Coexistence of Two Genetic Astrocytopathies-Megalencephalic Leukoencephalopathy and Vanishing White Matter Disease-in an Indian Child.
Das S et al.
Neuropediatrics, 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
Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.
Xu L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
Xie JJ et al.
Cns Neuroscience & Therapeutics, 2020
Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction.
Zhou L et al.
Cns Neuroscience & Therapeutics, 2019
Similarities and differences between infantile and early childhood onset vanishing white matter disease.
Zhou L et al.
Journal of Neurology, 2018
Endoplasmic reticulum stress intolerance in EIF2B3 mutant oligodendrocytes is modulated by depressed autophagy.
Chen N et al.
Brain & Development, 2016
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
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.
La Piana R et al.
Archives of Neurology, 2012
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
[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].
Wu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
[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