Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. (Q45922760)

17 December 2017

title

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

1 reference

17 December 2017

author name string

Pierre Labauge

1

1 reference

17 December 2017

Laetitia Horzinski

2

1 reference

17 December 2017

Xavier Ayrignac

3

1 reference

17 December 2017

Pierre Blanc

4

1 reference

17 December 2017

Sandra Vukusic

5

1 reference

17 December 2017

Diana Rodriguez

6

1 reference

17 December 2017

Francois Mauguiere

7

1 reference

17 December 2017

Laure Peter

8

1 reference

17 December 2017

Cyril Goizet

9

1 reference

17 December 2017

Francoise Bouhour

10

1 reference

17 December 2017

Christian Denier

11

1 reference

17 December 2017

Christian Confavreux

12

1 reference

17 December 2017

Michael Obadia

13

1 reference

17 December 2017

Frederic Blanc

14

1 reference

17 December 2017

Jérome de Sèze

15

1 reference

17 December 2017

Anne Fogli

16

1 reference

17 December 2017

Odile Boespflug-Tanguy

17

1 reference

17 December 2017

language of work or name

English

0 references

publication date

1 August 2009

1 reference

17 December 2017

published in

Brain

1 reference

17 December 2017

volume

132

1 reference

17 December 2017

issue

Pt 8

1 reference

17 December 2017

page(s)

2161-2169

1 reference

17 December 2017

Genes involved in leukodystrophies: a glance at glial functions.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Sexual differentiation of the brain: genes, estrogen, and neurotrophic factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Proliferation and death of oligodendrocytes and myelin proteins are differentially regulated in male and female rodents.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

The FAB: a Frontal Assessment Battery at bedside.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

The large spectrum of eIF2B-related diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Ovarian failure related to eukaryotic initiation factor 2B mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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/10.1093%2FBRAIN%2FAWP171

Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Manpower of neurologists in the post-socialist countries of Central and Eastern Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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/10.1093%2FBRAIN%2FAWP171

Childhood ataxia with diffuse central nervous system hypomyelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Leukodystrophy in patients with ovarian dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Developmental differences in white matter architecture between boys and girls

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Scale for the assessment and rating of ataxia: development of a new clinical scale

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

A new leukoencephalopathy with vanishing white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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/10.1093%2FBRAIN%2FAWP171

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Vanishing white matter disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Sex differences in the white matter and myelinated nerve fibers of Long-Evans rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP171

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP171

1 reference

17 December 2017

1 reference

17 December 2017