Associated Papers
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 yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.
de Almeida RA et al.
Plos One, 2013
Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.
Ding XQ et al.
Journal of Magnetic Resonance Imaging : Jmri, 2012
Characteristics of early MRI in children and adolescents with vanishing white matter.
van der Lei HD et al.
Neuropediatrics, 2012
[Vanishing white matter disease: a stress-related leukodystrophy].
Prange H et al.
Der Nervenarzt, 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
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
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