Associated Papers
Endogenous Repair in Vanishing White Matter.
Plug BC et al.
Annals of Neurology, 2025
Late-onset vanishing white matter disease: clinical and genotypic insights from the oldest reported patient.
Fonseca  et al.
Bmj Case Reports, 2025
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
Maintenance of p-eIF2α levels by the eIF2B complex is vital for colorectal cancer.
Škapik IP et al.
The Embo Journal, 2025
"Case report": Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter.
Savy S et al.
Frontiers in Genetics, 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
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
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Vanishing white matter.
van der Knaap MS et al.
Handbook of Clinical Neurology, 2024
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C et al.
Journal of Neurology, 2023
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Bugiani M et al.
Annals of Clinical and Translational Neurology, 2023
Adult-Onset White Matter Vanishing Disease With Ovarian Failure in a Salvadoran Patient.
Flores Lazo SL et al.
Cureus, 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
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A et al.
Neurology, 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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Quaio CRDC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
Terumitsu-Tsujita M et al.
Journal of Neurochemistry, 2020
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
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
Wei C et al.
Bmc Neurology, 2019
Vanishing white matter: deregulated integrated stress response as therapy target.
Abbink TEM et al.
Annals of Clinical and Translational Neurology, 2019
New Insights in Vanishing White Matter Disease: Isolated Bilateral Optic Neuropathy in Adult-Onset Disease: Response.
Biotti D et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2018
Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.
Bektaş G et al.
Clinical Neurology and Neurosurgery, 2018
Natural History of Vanishing White Matter.
Hamilton EMC et al.
Annals of Neurology, 2018
Neuronal Regulation of eIF2α Function in Health and Neurological Disorders.
Moon SL et al.
Trends in Molecular Medicine, 2018
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
Simons C et al.
Brain : a Journal of Neurology, 2018
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.
Leferink PS et al.
Glia, 2018
New Insights in Vanishing White Matter Disease: Isolated Bilateral Optic Neuropathy in Adult Onset Disease.
Barros SR et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2018
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 2017
An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease.
Singh RR et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Improving the in silico assessment of pathogenicity for compensated variants.
Azevedo L et al.
European Journal of Human Genetics : Ejhg, 2016
Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes.
Chen N et al.
Chinese Medical Journal, 2015
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Takano K et al.
Brain & Development, 2015
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Ayrignac X et al.
Brain : a Journal of Neurology, 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
Vanishing white matter disease in French-Canadian patients from Quebec.
Robinson MÈ et al.
Pediatric Neurology, 2014
MRI pattern approach of adult-onset inherited leukoencephalopathies.
Labauge P et al.
Neurology. Clinical Practice, 2014
Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.
Klingelhoefer L et al.
Pediatric Neurology, 2014