Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis
Eymard-Pierre, Eleonore, Yamanaka, Koji, Haeussler, Martin, Kress, Wolfram, Gauthier-Barichard, Fernande, Combes, Patricia, Cleveland, Don W., Boespflug-Tanguy, Odile
Published in Annals of neurology (01.06.2006)
Published in Annals of neurology (01.06.2006)
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Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations
Cailloux, Fabrice, Gauthier-Barichard, Fernande, Mimault, Corinne, Isabelle, Valerie, Courtois, Virginie, Giraud, Geneviève, Dastugue, Bernard, Boespflug-Tanguy, Odile
Published in European journal of human genetics : EJHG (01.11.2000)
Published in European journal of human genetics : EJHG (01.11.2000)
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Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure
Fogli, Anne, Gauthier-Barichard, Fernande, Schiffmann, Raphael, Vanderhoof, Vien H, Bakalov, Vladimir K, Nelson, Lawrence M, Boespflug-Tanguy, Odile
Published in BMC women's health (26.10.2004)
Published in BMC women's health (26.10.2004)
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Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation
Rodriguez, Diana, Gauthier, Fernande, Bertini, Enrico, Bugiani, Marianna, Brenner, Michael, N'guyen, Sylvie, Goizet, Cyril, Gelot, Antoinette, Surtees, Robert, Pedespan, Jean-Michel, Hernandorena, Xavier, Troncoso, Monica, Uziel, Graziela, Messing, Albee, Ponsot, Gérard, Pham-Dinh, Danielle, Dautigny, André, Boespflug-Tanguy, Odile
Published in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
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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 of PLP1
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
Published in Neurogenetics (01.03.2006)
Published in Neurogenetics (01.03.2006)
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Journal Article
Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure
Fogli, Anne, Gauthier-Barichard, Fernande, Schiffmann, Raphael, Vanderhoof, Vien H, Bakalov, Vladimir K, Nelson, Lawrence M, Boespflug-Tanguy, Odile
Published in BMC women's health (26.10.2004)
Published in BMC women's health (26.10.2004)
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Journal Article