E. Eymard-Pierre

发表

Fatal infantile leukodystrophy: A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

C. Bosman, R. Boldrini, E. Bertini, 2001, Neurology.

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

D. Gallot, P. Dechelotte, A. Tchirkov, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

M. Teichmann, O. Boespflug-Tanguy, C. Rousselle, 2018, Neurology: Genetics.

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.

R. Schiffmann, O. Boespflug-Tanguy, F. Mochel, 2010, Biochimica et biophysica acta.

Infantile ascending hereditary spastic paralysis (IAHSP)

E. Bertini, E. Valente, F. Santorelli, 2003, Neurology.

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

O. Boespflug-Tanguy, S. Abdelhak, R. Kefi, 2009, Journal of the Neurological Sciences.

Ovarian failure related to eukaryotic initiation factor 2B mutations.

R. Schiffmann, D. Rodriguez, O. Boespflug-Tanguy, 2003, American journal of human genetics.

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis

O. Boespflug-Tanguy, W. Kress, D. Cleveland, 2006, Annals of neurology.

(Includes: Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis, Infantile-Onset Ascending Hereditary Spastic Paralysis, Juvenile Primary Lateral Sclerosis)

E. Bertini, O. Boespflug-Tanguy, K. Yamanaka, 2005 .

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

E. Bertini, F. Santorelli, O. Boespflug-Tanguy, 2002, American journal of human genetics.

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

M. Elmaleh, O. Boespflug-Tanguy, J. Masliah-planchon, 2015, BMC Medical Genetics.

Fatal infantile leukodystrophy

C. Bosman, R. Boldrini, E. Bertini, 2001, Neurology.

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype–Phenotype Correlation

R. Touraine, T. Visser, C. Vaurs-Barrière, 2013, Human mutation.

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

C. Francannet, A. Tchirkov, P. Vago, 2012, European journal of medical genetics.

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant.

P. Combes, D. Gallot, C. Richard, 2011, Gene.

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

C. Francannet, A. Tchirkov, P. Vago, 2014, European journal of medical genetics.

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

C. Francannet, A. Tchirkov, P. Vago, 2018, Reproductive biomedicine online.

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

E. Bertini, O. Boespflug-Tanguy, D. Cleveland, 2003, Proceedings of the National Academy of Sciences of the United States of America.

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

Y. Bignon, M. Mouret-Reynier, C. Abrial, 2017, Oncotarget.

Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

D. Rodriguez, C. Vaurs-Barrière, O. Boespflug-Tanguy, 2012, Annals of human genetics.

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities

A. Tchirkov, P. Vago, C. Pébrel-Richard, 2010, Genetics in Medicine.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

C. Francannet, A. Tchirkov, P. Vago, 2013, European Journal of Human Genetics.

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

C. Francannet, D. Gallot, F. Laffargue, 2015, American journal of medical genetics. Part A.

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

E. Bertini, A. Mégarbané, A. Federico, 2003, Neurology.

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.

C. Francannet, A. Tchirkov, P. Vago, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

N. Kharrat, Ahmed Rebai, O. Boespflug-Tanguy, 2016, Neurological Sciences.

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

E. Bertini, R. Schiffmann, R. Surtees, 2004, Neurology.

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

R. Schiffmann, O. Boespflug-Tanguy, A. Fogli, 2002, Annals of neurology.

[eIF2B and Cree Indian leukodystrophies].

D. Rodriguez, O. Boespflug-Tanguy, A. Fogli, 2003, Medecine sciences : M/S.

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

O. Boespflug-Tanguy, P. Labauge, O. Dereeper, 2011, Journal of Neurology.

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome

C. Francannet, A. Tchirkov, P. Vago, 2013, American journal of medical genetics. Part A.

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1

E. Bertini, G. Tedeschi, F. Santorelli, 2006, Human mutation.

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

O. Boespflug-Tanguy, S. Krupenko, C. Sarret, 2019, npj Genomic Medicine.

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

O. Boespflug-Tanguy, S. Krupenko, C. Sarret, 2019, NPJ genomic medicine.

Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

A. Afenjar, R. Wanders, C. Vaurs-Barrière, 2012, Journal of the Neurological Sciences.

ADULT-ONSET PRIMARY LATERAL SCLEROSIS IS NOT ASSOCIATED WITH MUTATIONS IN THE ALS2 GENE

L. H. van den Berg, O. Boespflug-Tanguy, J. Wokke, 2007, Neurology.

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

A. Beaufrère, H. Laurichesse-Delmas, A. Tchirkov, 2015, Cytogenetic and Genome Research.