Associated Papers
Effects of the Small-Molecule ISRIB on the Rapid and Efficient Myelination of Oligodendrocytes in Human Stem Cell-Derived Cerebral Organoids in Patients With Leukoencephalopathy With Vanishing White Matter.
Yan W et al.
Cns Neuroscience & Therapeutics, 2025
Human-induced pluripotent stem cell-derived cerebral organoid of leukoencephalopathy with vanishing white matter.
Deng J et al.
Cns Neuroscience & Therapeutics, 2023
Secretomics Alterations and Astrocyte Dysfunction in Human iPSC of Leukoencephalopathy with Vanishing White Matter.
Deng J et al.
Neurochemical Research, 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
Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction.
Zhou L et al.
Cns Neuroscience & Therapeutics, 2019
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Takano K et al.
Brain & Development, 2015
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
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
Huyghe A et al.
Plos One, 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
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
[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
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA et al.
Nature Genetics, 2001