Lista de obras -

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

artículo científico publicado en 2002

A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease

artículo científico publicado en 2013

Atherogenic subfractions of lipoproteins in the treatment of metabolic syndrome by physical activity and diet - the RESOLVE trial.

artículo científico publicado en 2014

Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome

artículo científico publicado en 2006

CACH/VWM syndrome and leucodystrophies related to EIF2B mutations

artículo científico publicado en 2007

CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations

artículo científico publicado en 2012

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

artículo científico publicado en 2019

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

artículo científico publicado en 2002

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

artículo científico publicado en 2004

Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis

artículo científico publicado en 2017

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations

artículo científico publicado en 2012

Dominant form of vanishing white matter-like leukoencephalopathy

scientific article published on 01 October 2005

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders

artículo científico publicado en 2009

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients

artículo científico publicado en 2010

Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity

artículo científico publicado en 2008

Genes involved in leukodystrophies: a glance at glial functions.

artículo científico publicado en 2008

Histoire naturelle des leucodystrophies avec mutation EIF2B : étude rétrospective multicentrique de 24 cas adultes

artículo científico publicado en 2011

Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive

artículo científico publicado en 2015

Letter to the Editor: No evidence for association between the EIF2B5 gene and multiple sclerosis in French families

article

Ovarian failure related to eukaryotic initiation factor 2B mutations

artículo científico publicado en 2003

Peptidomics analysis of lymphoblastoid cell lines.

artículo científico publicado en 2010

Peptidomics and proteomics studies of transformed lymphocytes from patients mutated for the eukaryotic initiation factor 2B.

artículo científico publicado en 2006

Radiotherapy plus temozolomide in elderly patients with glioblastoma: a "real-life" report

artículo científico publicado en 2017

Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

artículo científico publicado en 2004

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

artículo científico publicado en 2008

The long non-coding RNA HOTAIR is transcriptionally activated by HOXA9 and is an independent prognostic marker in patients with malignant glioma.

artículo científico publicado en 2018

The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival

artículo científico publicado en 2015

Transcriptional alterations in glioma result primarily from DNA methylation-independent mechanisms

scientific article published on 18 September 2019

[Coupling proteinemia and serum protein electrophoresis: evaluation of the capillary technique (Capillarys 2, Sebia), experience from Clermont-Ferrand]

artículo científico publicado en 2010

[Monoclonal IgM interference with immunoturbidimetric determination of ferritin and transferrin]

artículo científico publicado en 2007

eIF2B and Cree Indian leukodystrophies

scientific article published on 01 March 2003

Lista de obras de

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

A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease

Atherogenic subfractions of lipoproteins in the treatment of metabolic syndrome by physical activity and diet - the RESOLVE trial.

Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome

CACH/VWM syndrome and leucodystrophies related to EIF2B mutations

CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

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

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations

Dominant form of vanishing white matter-like leukoencephalopathy

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients

Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity

Genes involved in leukodystrophies: a glance at glial functions.

Histoire naturelle des leucodystrophies avec mutation EIF2B : étude rétrospective multicentrique de 24 cas adultes

Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive

Letter to the Editor: No evidence for association between the EIF2B5 gene and multiple sclerosis in French families

Ovarian failure related to eukaryotic initiation factor 2B mutations

Peptidomics analysis of lymphoblastoid cell lines.

Peptidomics and proteomics studies of transformed lymphocytes from patients mutated for the eukaryotic initiation factor 2B.

Radiotherapy plus temozolomide in elderly patients with glioblastoma: a "real-life" report

Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

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

The long non-coding RNA HOTAIR is transcriptionally activated by HOXA9 and is an independent prognostic marker in patients with malignant glioma.

The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival

Transcriptional alterations in glioma result primarily from DNA methylation-independent mechanisms

[Coupling proteinemia and serum protein electrophoresis: evaluation of the capillary technique (Capillarys 2, Sebia), experience from Clermont-Ferrand]

[Monoclonal IgM interference with immunoturbidimetric determination of ferritin and transferrin]

eIF2B and Cree Indian leukodystrophies