Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
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
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
Huyghe A et al.
Plos One, 2012
Leukoencephalopathy with vanishing white matter: a review.
Bugiani M et al.
Journal of Neuropathology and Experimental Neurology, 2010
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Jansen AC et al.
Epilepsia, 2008
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
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
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
[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy].
Esmer C et al.
Boletin Medico Del Hospital Infantil De Mexico, 0
Select a paper to view details