Leukoencephalopathy With Vanishing White Matter: A Review

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases

(2009) P. Labauge et al.   BRAIN

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease

(2009) Ye Wu et al.   JOURNAL OF HUMAN GENETICS

Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders

(2009) Laetitia Horzinski et al.   PLoS One

Diagnosis of inflammatory demyelination in biopsy specimens: a practical approach

(2008) Tanja Kuhlmann et al.   ACTA NEUROPATHOLOGICA

Exon Deletion in the Non-catalytic Domain of eIF2Bɛ Due to a Splice Site Mutation Leads to Infantile Forms of CACH/VWM with Severe Decrease of eIF2B GEF Activity

(2008) L. Horzinski et al.   ANNALS OF HUMAN GENETICS

Atypical presentation of vanishing white matter disease

(2008) Lucia Maria da Costa Fontenelle et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease

(2008) Nathalie Damon-Perriere et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

The ovarioleukodystrophy

(2008) Stéphane Mathis et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy

(2008) An C. Jansen et al.   EPILEPSIA

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

(2008) A. Vanderver et al.   NEUROLOGY

Vanishing White Matter Disease Associated with Progressive Macrocephaly

(2008) M. Pineda et al.   NEUROPEDIATRICS

A Point Mutation in Translation Initiation Factor 2B Leads to a Continuous Hyper Stress State in Oligodendroglial-Derived Cells

(2008) Liraz Kantor et al.   PLoS One