Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report.
Escobar-Pacheco M et al.
Cureus, 2024
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C et al.
Journal of Neurology, 2023
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Mainali A et al.
American Journal of Medical Genetics. Part A, 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
Vanishing White Matter Disease Presenting as Dementia and Infertility: A Case Report.
Parihar J et al.
Neurology. Genetics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter.
Wongkittichote P et al.
Frontiers in Genetics, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Lee YR et al.
Human Molecular Genetics, 2021
Adult Hereditary White Matter Diseases With Psychiatric Presentation: Clinical Pointers and MRI Algorithm to Guide the Diagnostic Process.
Costei C et al.
The Journal of Neuropsychiatry and Clinical Neurosciences, 2021
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
Cohen L et al.
Annals of Human Genetics, 2020
Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
Wei C et al.
Bmc Neurology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: a case report.
Herwerth M et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2015
Vanishing white matter disease in French-Canadian patients from Quebec.
Robinson MÈ et al.
Pediatric Neurology, 2014
A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
Ghezzi L et al.
Neurology, 2012
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.
La Piana R et al.
Archives of Neurology, 2012
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Carra-Dalliere C et al.
Revue Neurologique, 2011
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
Horzinski L et al.
Plos One, 2009
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA et al.
Journal of Child Neurology, 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
Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease.
Accogli A et al.
The Journal of Neuropsychiatry and Clinical Neurosciences, 0