(Q37788513)

23 August 2017

title

Leukoencephalopathy with vanishing white matter: a review (English)

1 reference

23 August 2017

Leukoencephalopathy With Vanishing White Matter: A Review (English)

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

leukoencephalopathy with vanishing white matter

12 July 2024

main subject

0 references

leukoencephalopathy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20838246

12 July 2024

4

Gert C Scheper

1 reference

23 August 2017

2

Ilja Boor

1 reference

23 August 2017

Marianna Bugiani

1

1 reference

23 August 2017

James M. Powers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20838246

12 July 2024

Marjo S. van der Knaap

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20838246

12 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20838246

12 July 2024

publication date

1 October 2010

1 reference

full work available at URL

23 August 2017

https://academic.oup.com/jnen/article-pdf/69/10/987/9559820/69-10-987.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20838246

http://apt.allenpress.com/aptonline/?request=get-abstract&issn=0022-3069&volume=069&issue=10&page=0987

12 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20838246

http://apt.allenpress.com/aptonline/?request=get-document&issn=0022-3069&volume=069&issue=10&page=0987

12 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20838246

Journal of Neuropathology & Experimental Neurology

12 July 2024

published in

1 reference

23 August 2017

volume

69

1 reference

23 August 2017

issue

10

1 reference

23 August 2017

page(s)

987-996

1 reference

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

23 August 2017

cites work

1 reference

24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1016/S1097-2765(00)00108-8

A new leukoencephalopathy with vanishing white matter

1

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Childhood ataxia with diffuse central nervous system hypomyelination

12 July 2024

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

12 July 2024

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Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

12 July 2024

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Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families

12 July 2024

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A Japanese girl with leukoencephalopathy with vanishing white matter.

12 July 2024

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Vanishing white matter disease in a child presenting with ataxia

12 July 2024

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Vanishing white matter disease: the first reported chinese patient

12 July 2024

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

12 July 2024

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

12 July 2024

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

12 July 2024

11

1 reference

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

12 July 2024

12

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation

12 July 2024

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Peripheral neuropathy in a child with Cree leukodystrophy

12 July 2024

14

1 reference

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Phenotypic variation in leukoencephalopathy with vanishing white matter

12 July 2024

15

1 reference

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Fright is a provoking factor in vanishing white matter disease.

12 July 2024

16

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Acute fright induces onset of symptoms in vanishing white matter disease-case report

12 July 2024

17

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12 July 2024

18

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

19

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults

12 July 2024

20

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

21

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

22

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia

12 July 2024

23

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis.

12 July 2024

24

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter

12 July 2024

25

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Late onset vanishing white matter disease

12 July 2024

26

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Leukodystrophy in patients with ovarian dysgenesis

12 July 2024

27

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Ovarian failure related to eukaryotic initiation factor 2B mutations

12 July 2024

28

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

The ovarioleukodystrophy.

12 July 2024

29

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Leukoencephalopathy with vanishing white matter:: an adult onset case

12 July 2024

30

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

31

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba

12 July 2024

32

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

12 July 2024

33

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

34

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

35

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Atypical presentation of vanishing white matter disease.

12 July 2024

37

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Diffusion-weighted MR imaging in leukodystrophies

12 July 2024

38

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

39

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Cree leukoencephalopathy: neuroimaging findings

12 July 2024

41

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

42

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Myelinopathia centralis diffusa (vanishing white matter disease) in a four-year-old boy.

12 July 2024

43

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

44

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

45

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

46

1 reference

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Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

12 July 2024

47

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Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

12 July 2024

48

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

49

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The large spectrum of eIF2B-related diseases

12 July 2024

50

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

51

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

The spectrum of mutations for the diagnosis of vanishing white matter disease.

12 July 2024

52

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Vanishing white matter disease

12 July 2024

53

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

55

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Vanishing white matter disease associated with progressive macrocephaly.

12 July 2024

56

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

57

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

58

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

12 July 2024

59

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

12 July 2024

61

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

1H chemical shift imaging, MRI, and diffusion-weighted imaging in vanishing white matter disease.

12 July 2024

64

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

65

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy

12 July 2024

66

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Diagnosis of inflammatory demyelination in biopsy specimens: a practical approach

12 July 2024

67

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

The unfolded protein response in vanishing white matter disease.

12 July 2024

68

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.

12 July 2024

69

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

75

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

[Cavitating neutral fat leukodystrophy with recurrent course]

12 July 2024

76

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Regulation of eukaryotic initiation factor eIF2B.

12 July 2024

79

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Defective translation initiation causes vanishing of cerebral white matter

12 July 2024

80

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Translation matters: protein synthesis defects in inherited disease

12 July 2024

81

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Eukaryotic initiation factor 2B (eIF2B).

12 July 2024

83

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Gene-specific regulation by general translation factors

12 July 2024

84

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

86

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

87

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

88

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

89

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Initiation factor eIF2 alpha phosphorylation in stress responses and apoptosis.

12 July 2024

90

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Transcriptional and translational control in the Mammalian unfolded protein response

12 July 2024

91

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

93

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

94

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

95

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

12 July 2024

96

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

12 July 2024

97

1 reference

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A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells

12 July 2024

98

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity

12 July 2024

99

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders

12 July 2024

100

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Shutdown of translation: lethal or protective? Unfolded protein response versus apoptosis

12 July 2024

101

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

The unfolded protein response

12 July 2024

102

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

ER stress and the unfolded protein response

12 July 2024

103

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

104

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

106

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

107

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Roles of CHOP/GADD153 in endoplasmic reticulum stress

12 July 2024

108

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease

12 July 2024

109

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

110

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

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

12 July 2024

111

1 reference

https://api.crossref.org/works/10.1097/NEN.0B013E3181F2EAFA

12 July 2024

Identifiers

1 reference

release_x456ysdqh5gvzanjb5h6pe3et4

23 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/x456ysdqh5gvzanjb5h6pe3et4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference