(Q31037602)

28 June 2017

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title

Vanishing white matter disease (English)

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28 June 2017

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3

Gert C Scheper

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28 June 2017

author name string

Marjo S van der Knaap

series ordinal

1

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28 June 2017

Jan C Pronk

series ordinal

2

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28 June 2017

publication date

1 May 2006

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28 June 2017

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28 June 2017

volume

5

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28 June 2017

issue

5

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28 June 2017

page(s)

413-423

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Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

28 June 2017

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7 January 2021

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy

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7 January 2021

Childhood ataxia with diffuse central nervous system hypomyelination.

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7 January 2021

A new leukoencephalopathy with vanishing white matter.

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7 January 2021

Phenotypic variation in leukoencephalopathy with vanishing white matter

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7 January 2021

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

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7 January 2021

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7 January 2021

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

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7 January 2021

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

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7 January 2021

Late-life cavitating dystrophy of the cerebral and cerebellar white matter. A form of sudanophil leucodystrophy

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7 January 2021

[Cavitating neutral fat leukodystrophy with recurrent course]

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7 January 2021

Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination

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7 January 2021

Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development.

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7 January 2021

Fright is a provoking factor in vanishing white matter disease.

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7 January 2021

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults

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7 January 2021

Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia.

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7 January 2021

Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.

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7 January 2021

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

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7 January 2021

Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba

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7 January 2021

Leukodystrophy in patients with ovarian dysgenesis.

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7 January 2021

Ovarian failure related to eukaryotic initiation factor 2B mutations

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7 January 2021

"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype.

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7 January 2021

Diffusion-weighted MR imaging in leukodystrophies

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7 January 2021

Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination.

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7 January 2021

Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter

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7 January 2021

Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease

1 reference

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7 January 2021

Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.

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7 January 2021

Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

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7 January 2021

The life and death of oligodendrocytes in vanishing white matter disease

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7 January 2021

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27

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7 January 2021

Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five Genes

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7 January 2021

Vanishing white matter disease: a review with focus on its genetics

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7 January 2021

The effect of genotype on the natural history of eIF2B-related leukodystrophies

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7 January 2021

Identification of ten novel mutations in patients with eIF2B-related disorders

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7 January 2021

Regulation of eukaryotic initiation factor eIF2B.

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7 January 2021

Gene-specific regulation by general translation factors

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7 January 2021

Mammalian stress response: cell physiology, structure/function of stress proteins, and implications for medicine and disease

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7 January 2021

Inactivation of eIF2B and phosphorylation of PHAS-I in heat-shocked rat hepatoma cells

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7 January 2021

Protein synthesis and protein phosphorylation during heat stress, recovery, and adaptation

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7 January 2021

Upregulation of iNOS expression and phosphorylation of eIF-2alpha are paralleled by suppression of protein synthesis in rat hypothalamus in a closed head trauma model

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7 January 2021

Initiation factor eIF2 alpha phosphorylation in stress responses and apoptosis.

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7 January 2021

Tight binding of the phosphorylated alpha subunit of initiation factor 2 (eIF2alpha) to the regulatory subunits of guanine nucleotide exchange factor eIF2B is required for inhibition of translation initiation

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970440-9

7 January 2021

Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity

1 reference

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7 January 2021

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

1 reference

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7 January 2021

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

1 reference

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7 January 2021

ER stress and the unfolded protein response

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7 January 2021

The unfolded protein response in vanishing white matter disease.

1 reference

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7 January 2021

Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase

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7 January 2021

Regulated translation initiation controls stress-induced gene expression in mammalian cells

1 reference

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7 January 2021

Translation reinitiation at alternative open reading frames regulates gene expression in an integrated stress response

1 reference

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7 January 2021

Roles of CHOP/GADD153 in endoplasmic reticulum stress

1 reference

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7 January 2021

Feedback inhibition of the unfolded protein response by GADD34-mediated dephosphorylation of eIF2alpha

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970440-9

7 January 2021

Gadd153 sensitizes cells to endoplasmic reticulum stress by down-regulating Bcl2 and perturbing the cellular redox state

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970440-9

7 January 2021

Cellular internal ribosome entry segments: structures, trans-acting factors and regulation of gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970440-9

7 January 2021

Phosphorylation of initiation factor-2 alpha is required for activation of internal translation initiation during cell differentiation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970440-9

7 January 2021

Internal ribosome initiation of translation and the control of cell death.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2806%2970440-9

7 January 2021

CHOP plays a pivotal role in the astrocyte death induced by oxygen and glucose deprivation

1 reference

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7 January 2021

Myelin biogenesis: vesicle transport in oligodendrocytes

1 reference

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7 January 2021

10.1016/S1474-4422(06)70440-9

Identifiers

DOI

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28 June 2017

1 reference