Associated Papers
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list
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
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
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
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
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
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
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
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