F. Gauthier-Barichard

Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure

R. Schiffmann, L. Nelson, O. Boespflug-Tanguy, 2004, BMC women's health.

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

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

Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies

E. Bertini, R. Schiffmann, T. Frebourg, 2006, Annals of human genetics.

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

B. Dastugue, O. Boespflug-Tanguy, V. Courtois, 2000, European journal of human genetics : EJHG.

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1

E. Bertini, R. Schiffmann, D. Rodriguez, 2006, Neurogenetics.

Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations

B. Dastugue, O. Boespflug-Tanguy, V. Courtois, 2000, European Journal of Human Genetics.

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.

Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure

R. Schiffmann, L. Nelson, O. Boespflug-Tanguy, 2004, BMC Women's Health.