Condition: Childhood Ataxia with Central Nervous System Hypomyelinization


rs104894425 in EIF2B2 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PMID 22285377 2012 Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

PMID 22729508 2013 Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

PMID 15060152 2004 Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

PMID 15136673 2004 The effect of genotype on the natural history of eIF2B-related leukodystrophies.

PMID 11704758 2001 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

PMID 15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.

PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 18263758 2008 Genetic and clinical heterogeneity in eIF2B-related disorder.

PMID 22430157 2012 Characteristics of early MRI in children and adolescents with vanishing white matter.

PMID 14566705 2003 eIF2B-related disorders: antenatal onset and involvement of multiple organs.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 21560189 2011 Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

rs113994022 in EIF2B3 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 25079571 2014 Vanishing white matter disease in French-Canadian patients from Quebec.

PMID 25761052 2015 Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

PMID 11835386 2002 Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PMID 19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

rs113994049 in EIF2B5 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 20975056 2010 Genotype-phenotype correlation in vanishing white matter disease.

PMID 24938145 2014 Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.

PMID 22952606 2012 CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.

PMID 22699478 2011 Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.

PMID 12325082 2002 Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

PMID 15136673 2004 The effect of genotype on the natural history of eIF2B-related leukodystrophies.

PMID 19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PMID 15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.

PMID 11704758 2001 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

rs28939717 in LOC105374249;EIF2B5 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.

PMID 15060152 2004 Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

PMID 11704758 2001 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

PMID 12325082 2002 Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

PMID 20975056 2010 Genotype-phenotype correlation in vanishing white matter disease.

PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PMID 21560189 2011 Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.