Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 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
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
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.
Scappaticci C et al.
Pediatric Neurology, 2019
Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
Wei C et al.
Bmc Neurology, 2019
Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
Tucker EJ et al.
European Journal of Human Genetics : Ejhg, 2018
EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response.
Moon SL et al.
Rna (new York, N.y.), 2018
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.
Bugiani M et al.
Brain Pathology (zurich, Switzerland), 2018
Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.
Tucker EJ et al.
Endocrine Reviews, 2016
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A et al.
Annals of Neurology, 2016
Vanishing white matter disease in French-Canadian patients from Quebec.
Robinson MÈ et al.
Pediatric Neurology, 2014
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
Sambati L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013
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
Long-term tremor control with bilateral Vim-DBS in vanishing white matter disease.
Valálik I et al.
Parkinsonism & Related Disorders, 2012
Characteristics of early MRI in children and adolescents with vanishing white matter.
van der Lei HD et al.
Neuropediatrics, 2012
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.
Fogli A et al.
Plos One, 2012
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Carra-Dalliere C et al.
Revue Neurologique, 2011
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Liu R et al.
Human Mutation, 2011
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
Horzinski L et al.
Bmc Neurology, 2010
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
Horzinski L et al.
Plos One, 2009
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
Labauge P et al.
Brain : a Journal of Neurology, 2009
Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.
Vanderver A et al.
Neurology, 2008
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
[Rett syndrome: 50 years' history of a still not well known condition].
Campos-Castello J et al.
Medicina, 2007
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Vanishing white matter disease: a review with focus on its genetics.
Pronk JC et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
Mierzewska H et al.
Folia Neuropathologica, 2006
MRI of a family with leukoencephalypathy with vanishing white matter.
Jurkiewicz E et al.
Pediatric Radiology, 2005
Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A et al.
Human Mutation, 2005
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.
Fogli A et al.
Bmc Women's Health, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A et al.
Neurology, 2004
Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
Richardson JP et al.
Molecular and Cellular Biology, 2004
Translation factors: in sickness and in health.
Abbott CM et al.
Trends in Biochemical Sciences, 2004
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA et al.
Journal of Child Neurology, 2003
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA et al.
Nature Genetics, 2001
[Leukoencephalopathy with vanishing white matter: A case report].
San Antonio-Arce V et al.
Revista De Neurologia, 0