Associated Papers
Infantile-Onset Vanishing White Matter Disease in an Azerbaijani Infant With a Homozygous EIF2B5 p.(Arg195His) Variant.
Isayev C et al.
Cureus, 2026
Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter.
Triñanes-Ramos J et al.
Brain : a Journal of Neurology, 2025
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
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
In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.
Böck D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Vanishing white matter.
van der Knaap MS et al.
Handbook of Clinical Neurology, 2024
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
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Slynko I et al.
Molecular Genetics & Genomic Medicine, 2021
CT and MRI findings in infantile vanishing white matter.
Robbins K et al.
Radiology Case Reports, 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
Astrocytes are central in the pathomechanisms of vanishing white matter.
Dooves S et al.
The Journal of Clinical Investigation, 2016
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Takano K et al.
Brain & Development, 2015
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
Huyghe A et al.
Plos One, 2012
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Carra-Dalliere C et al.
Revue Neurologique, 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
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
Horzinski L et al.
Bmc Neurology, 2010
Leukoencephalopathy with vanishing white matter: a review.
Bugiani M et al.
Journal of Neuropathology and Experimental Neurology, 2010
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
Horzinski L et al.
Plos One, 2009
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
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Jansen AC et al.
Epilepsia, 2008
Peripheral neuropathy in a child with Cree leukodystrophy.
Huntsman RJ et al.
Journal of Child Neurology, 2007
Late onset vanishing white matter disease.
Riecker A et al.
Journal of Neurology, 2007
[Rett syndrome: 50 years' history of a still not well known condition].
Campos-Castello J et al.
Medicina, 2007
Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.
Schiffmann R et al.
Molecular Genetics and Metabolism, 2006
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Vanishing white matter disease: a review with focus on its genetics.
Pronk JC et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
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
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.
Ohtake H et al.
Neurology, 2004
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
Li W et al.
Molecular and Cellular Biology, 2004
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
van der Knaap MS et al.
American Journal of Human Genetics, 2003
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
Fogli A et al.
Neurology, 2002
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
Fogli A et al.
Annals of Neurology, 2002
[Leukoencephalopathy with vanishing white matter: A case report].
San Antonio-Arce V et al.
Revista De Neurologia, 0