(Q28472229)

ORCID Public Data File 2021

Raphael Schiffmann

6

object named as

Raphael Schiffmann

0 references

author name string

Laetitia Horzinski

1

0 references

Aurélia Huyghe

2

0 references

Marie-Céleste Cardoso

3

0 references

Céline Gonthier

4

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Lemlih Ouchchane

5

0 references

Pierre Blanc

7

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Odile Boespflug-Tanguy

Creative Commons Attribution 4.0 International

8

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language of work or name

English

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publication date

15 December 2009

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published in

PLOS One

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volume

4

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issue

12

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page(s)

e8318

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copyright license

start time

15 December 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

Ovarian failure related to eukaryotic initiation factor 2B mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

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=2789406

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=2789406

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=2789406

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

Invited article: an MRI-based approach to the diagnosis of white matter disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

A new leukoencephalopathy with vanishing white matter

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

Childhood ataxia with diffuse central nervous system hypomyelination

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789406

A routine method for the establishment of permanent growing lymphoblastoid cell lines

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20016818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0008318

1 reference

ADS bibcode

2009PLoSO...4.8318H

0 references

1 reference

1 reference

PubMed publication ID

20016818

1 reference