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BMC PSYCHIATRY (2020)
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
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Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease
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Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
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Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings
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Clinical and genetic characterization of leukoencephalopathies in adults
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Update on Leukodystrophies: A Historical Perspective and Adapted Definition
Sietske H. Kevelam et al.
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Infantile Onset Vanishing White Matter Disease Associated with a Novel EIF2B5 Variant, Remarkably Long Life Span, Severe Epilepsy, and Hypopituitarism
April L. Woody et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
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Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype
Ahmed Alsalem et al.
GENE (2012)
Leukoencephalopathy With Vanishing White Matter: A Review
Marianna Bugiani et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2010)
Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease
Graham D. Pavitt et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2009)
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
Ye Wu et al.
JOURNAL OF HUMAN GENETICS (2009)
Atypical presentation of vanishing white matter disease
Lucia Maria da Costa Fontenelle et al.
ARQUIVOS DE NEURO-PSIQUIATRIA (2008)
The spectrum of mutations for the diagnosis of vanishing white matter disease
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Defective translation initiation causes vanishing of cerebral white matter
Gert C. Scheper et al.
TRENDS IN MOLECULAR MEDICINE (2006)
eIF2B-related disorders: Antenatal onset and involvement of multiple organs
MS van der Knaap et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
MS van der Knaap et al.
ANNALS OF NEUROLOGY (2002)
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
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NATURE GENETICS (2001)