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List of works by Anne Fogli

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 October 2006

CACH/VWM syndrome and leucodystrophies related to EIF2B mutations

scientific article

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

scientific article

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

scientific article published on 4 April 2019

Comparison of three methods of diagnosis of plasma unmeasured anions in critically ill patients

scientific article published on June 10, 2013

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

scientific article (publication date: October 2002)

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

scientific article

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

scientific article published on 28 July 2017

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations

scientific article (publication date: 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

scientific article

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

scientific article

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

scientific article published on 19 February 2008

Genes involved in leukodystrophies: a glance at glial functions.

scientific article

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

scientific article published on 14 June 2011

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

scientific article published on 22 September 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

scientific article

Peptidomics analysis of lymphoblastoid cell lines.

scientific article

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

scientific article published on 7 July 2006

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

scientific article published on 6 December 2017

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

scientific article

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

scientific article

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

scientific article published on 28 February 2018

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

scientific article published on 30 December 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]

scientific article published on 01 November 2010

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

scientific article published on 01 November 2007

eIF2B and Cree Indian leukodystrophies

scientific article published on 01 March 2003

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