eIF2B-related disorders: antenatal onset and involvement of multiple organs (Q24298049)

4 July 2017

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eIF2B-related disorders: antenatal onset and involvement of multiple organs (English)

1 reference

Eukaryotic translation initiation factor 2B subunit epsilon

4 July 2017

main subject

1 reference

Eukaryotic translation initiation factor 2B subunit delta

1 reference

Eukaryotic translation initiation factor 2B subunit beta

1 reference

myelination

1 reference

author

Christopher G. Proud

11

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4 July 2017

7

Eugen Boltshauser

1 reference

4 July 2017

12

Gert C Scheper

1 reference

4 July 2017

Carola G M van Berkel

2

object named as

Carola G M van Berkel

1 reference

4 July 2017

author name string

Marjo S van der Knaap

1

1 reference

4 July 2017

Jochen Herms

3

1 reference

4 July 2017

Rudy van Coster

4

1 reference

4 July 2017

Martina Baethmann

5

1 reference

4 July 2017

Sakkubai Naidu

6

1 reference

4 July 2017

Michèl A A P Willemsen

8

1 reference

4 July 2017

Barbara Plecko

9

1 reference

4 July 2017

Georg F Hoffmann

10

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4 July 2017

Jan C Pronk

13

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4 July 2017

language of work or name

English

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publication date

17 October 2003

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American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

73

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4 July 2017

issue

5

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4 July 2017

page(s)

1199-1207

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Ovarian failure related to eukaryotic initiation factor 2B mutations

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

Regulation of mammalian translation factors by nutrients

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

Regulation of eukaryotic initiation factor eIF2B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

MR imaging of the various stages of normal myelination during the first year of life

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

Regulation of translation initiation factors by signal transduction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

A new leukoencephalopathy with vanishing white matter

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

Childhood ataxia with diffuse central nervous system hypomyelination

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180499

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

29 November 2018

1 reference

12 December 2020

Use of monoclonal antibodies to study the structure and function of eukaryotic protein synthesis initiation factor eIF-2B

1 reference

12 December 2020

Phenotypic variation in leukoencephalopathy with vanishing white matter

1 reference

12 December 2020

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

1 reference

12 December 2020

Physiological stresses inhibit guanine-nucleotide-exchange factor in Ehrlich cells

1 reference

12 December 2020

Identifiers

DOI

10.1086/379524

1 reference

OpenCitations bibliographic resource ID

4 July 2017

2684041

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference