Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five Genes (Q28211740)

title

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes (English)

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

1 reference

https://api.crossref.org/works/10.1177/08830738030180091101

leukoencephalopathy with vanishing white matter

24 March 2024

main subject

white matter

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human chromosome 3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14572143

24 March 2024

1

Peter A. J. Leegwater

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14572143

24 March 2024

author name string

Jan C. Pronk

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14572143

24 March 2024

Marjo S. van der Knaap

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14572143

full work available at URL

24 March 2024

language of work or name

English

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publication date

September 2003

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http://journals.sagepub.com/doi/pdf/10.1177/08830738030180091101

1 reference

https://api.crossref.org/works/10.1177/08830738030180091101

Journal of Child Neurology

24 March 2024

published in

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volume

18

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issue

9

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page(s)

639-45

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cites work

Childhood ataxia with diffuse central nervous system hypomyelination.

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

A new leukoencephalopathy with vanishing white matter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

Regulation of translation initiation factors by signal transduction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091101

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

21 January 2018

1

1 reference

https://api.crossref.org/works/10.1177/08830738030180091101

Phenotypic variation in leukoencephalopathy with vanishing white matter

24 March 2024

4

1 reference

https://api.crossref.org/works/10.1177/08830738030180091101

[Cavitating neutral fat leukodystrophy with recurrent course]

24 March 2024

7

1 reference

https://api.crossref.org/works/10.1177/08830738030180091101

24 March 2024

Identifiers

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