Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus (Q28204048)

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3 December 2019

title

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

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3 December 2019

1

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3 December 2019

Eléonore Eymard-Pierre

3

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3 December 2019

author name string

Kondi Wong

2

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3 December 2019

Jack Wenger

4

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3 December 2019

John-Paul Bouffard

5

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3 December 2019

Ehud Goldin

6

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3 December 2019

Deborah N Black

7

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3 December 2019

Odile Boespflug-Tanguy

8

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3 December 2019

Raphael Schiffmann

9

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3 December 2019

language of work or name

English

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publication date

1 October 2002

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3 December 2019

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3 December 2019

volume

52

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3 December 2019

issue

4

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3 December 2019

page(s)

506-510

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Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba

3 December 2019

cites work

1 reference

Childhood ataxia with diffuse central nervous system hypomyelination.

21 January 2018

1 reference

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

21 January 2018

1 reference

A new leukoencephalopathy with vanishing white matter.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation

21 January 2018

1 reference

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10339

2 references

Consolidated OpenCitations Corpus – April 2017

1317151

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1317151

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1317151