Associated Papers
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
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
33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf
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
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 2017
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