Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

Axonal abnormalities in vanishing white matter

(2018) Melanie D. Klok et al.   Annals of Clinical and Translational Neurology

Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease

(2017) Gali Raini et al.   JOURNAL OF NEUROCHEMISTRY

Mitochondrial malfunction in vanishing white matter disease: a disease of the cytosolic translation machinery

(2017) Orna Elroy-Stein   Neural Regeneration Research

Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment

(2017) S. Dooves et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Astrocytes are central in the pathomechanisms of vanishing white matter

(2016) Stephanie Dooves et al.   JOURNAL OF CLINICAL INVESTIGATION

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

(2016) Sietske Kevelam et al.   NEUROPEDIATRICS

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease

(2013) Marianna Bugiani et al.   BRAIN

Phenotypic Conversions of "Protoplasmic" to "Reactive" Astrocytes in Alexander Disease

(2013) A. A. Sosunov et al.   JOURNAL OF NEUROSCIENCE

Involvement of hyaluronan synthesis in ovarian follicle growth in rats

(2013) Noriyuki Takahashi et al.   REPRODUCTION

Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations

(2012) Aurélia Huyghe et al.   PLoS One

GFAP Isoforms in Adult Mouse Brain with a Focus on Neurogenic Astrocytes and Reactive Astrogliosis in Mouse Models of Alzheimer Disease

(2012) Willem Kamphuis et al.   PLoS One

Poor Cerebral Inflammatory Response in eIF2B Knock-In Mice: Implications for the Aetiology of Vanishing White Matter Disease

(2012) Yuval Cabilly et al.   PLoS One

White matter lesions defined by diffusion tensor imaging in older adults

(2011) Stephen A. Back et al.   ANNALS OF NEUROLOGY

Arrested preoligodendrocyte maturation contributes to myelination failure in premature infants

(2011) Joshua R. Buser et al.   ANNALS OF NEUROLOGY

A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter

(2011) Michal Geva et al.   BRAIN

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

(2011) Rui Liu et al.   HUMAN MUTATION

GFAP in health and disease

(2011) J. Middeldorp et al.   PROGRESS IN NEUROBIOLOGY

Leukoencephalopathy With Vanishing White Matter: A Review

(2010) Marianna Bugiani et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Defective Glial Maturation in Vanishing White Matter Disease

(2010) Marianna Bugiani et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Genotype-phenotype correlation in vanishing white matter disease

(2010) H. D. W. van der Lei et al.   NEUROLOGY

Astrocytes: biology and pathology

(2009) Michael V. Sofroniew et al.   ACTA NEUROPATHOLOGICA

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

(2009) P. Labauge et al.   BRAIN

GFAPδ in radial glia and subventricular zone progenitors in the developing human cortex

(2009) Jinte Middeldorp et al.   DEVELOPMENT

Early Reduction of Total N-Acetyl-Aspartate-Compounds in Patients With Classical Vanishing White Matter Disease. A Long-Term Follow-Up MRS Study

(2009) Steffi F Dreha-Kulaczewski et al.   PEDIATRIC RESEARCH

Diagnosis of inflammatory demyelination in biopsy specimens: a practical approach

(2008) Tanja Kuhlmann et al.   ACTA NEUROPATHOLOGICA

Atypical presentation of vanishing white matter disease

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

Expression of Hyaluronan Synthase 1 and Distribution of Hyaluronan During Follicular Atresia in Pig Ovaries1

(2008) Yuko Miyake et al.   BIOLOGY OF REPRODUCTION

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

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

A ‘GAG’ reflex prevents repair of the damaged CNS

(2007) Larry S. Sherman et al.   TRENDS IN NEUROSCIENCES