Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations von Cailloux, Fabrice, Gauthier-Barichard, Fernande, Mimault, Corinne, Isabelle, Valerie, Courtois, Virginie, Giraud, Geneviève, Dastugue, Bernard, Boespflug-Tanguy, Odile

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Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies von Vaurs‐Barriere, C., Bonnet‐Dupeyron, M‐N., Combes, P., Gauthier‐Barichard, F., Reveles, X. T., Schiffmann, R., Bertini, E., Rodriguez, D., Vago, P., Armour, J. A. L., Saugier‐Veber, P., Frebourg, T., Leach, R. J., Boespflug‐Tanguy, O.

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Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene von BRUGMAN, F, EYMARD-PIERRE, E, VAN DEN BERG, L. H, WOKKE, J. H. J, GAUTHIER-BARICHARD, F, BOESPFLUG-TANGUY, O

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Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure von Fogli, Anne, Gauthier-Barichard, Fernande, Schiffmann, Raphael, Vanderhoof, Vien H, Bakalov, Vladimir K, Nelson, Lawrence M, Boespflug-Tanguy, Odile

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PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies : identification of one partial triplication and two partial deletions... von COMBES, Patricia, BONNET-DUPEYRON, Marie-Noelle, GAUTHIER-BARICHARD, Fernande, SCHIFFMANN, Raphael, BERTINI, Enrico, RODRIGUEZ, Diana, ARMOUR, John A. L, BOESPFLUG-TANGUY, Odile, VAURS-BARRIERE, Catherine

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Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease von Cailloux, F, Gauthier-Barichard, F, Mimault, C, Isabelle, V, Courtois, V, Giraud, G, Dastugue, B, Boespflug-Tanguy, O

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