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

Por Yamanaka, Koji, Vande Velde, Christine, Eymard-Pierre, Eleonore, Bertini, Enrico, Boespflug-Tanguy, Odile, Cleveland, Don W.
Publicado em 2003

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Por Eymard-Pierre, Eleonore, Lesca, Gaetan, Dollet, Sandra, Santorelli, Filippo Maria, di Capua, Matteo, Bertini, Enrico, Boespflug-Tanguy, Odile
Publicado em 2002

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

Por Mochel, Fanny, Boildieu, Nadège, Barritault, Julie, Sarret, Catherine, Eymard-Pierre, Eleonore, Seguin, François, Schiffmann, Raphael, Boespflug-Tanguy, Odile
Publicado em 2010

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

Por Kemeny, Stephan, Brugnon, Florence, Eymard-Pierre, Eléonore, Goumy, Carole, Janny, Laurent, Tchirkov, Andreï, Francannet, Christine, Vago, Philippe, Pebrel-Richard, Céline
Publicado no Asian J Androl (2017)

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Por Fogli, Anne, Rodriguez, Diana, Eymard-Pierre, Eléonore, Bouhour, Françoise, Labauge, Pierre, Meaney, Brandon F., Zeesman, Susan, Kaneski, Christine R., Schiffmann, Raphael, Boespflug-Tanguy, Odile
Publicado em 2003

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

Por Pebrel-Richard, Céline, Debost-Legrand, Anne, Eymard-Pierre, Eléonore, Greze, Victoria, Kemeny, Stéphan, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Vago, Philippe, Goumy, Carole, Francannet, Christine
Publicado em 2014

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

Por Masliah-Planchon, Julien, Dupont, Céline, Vartzelis, George, Trimouille, Aurélien, Eymard-Pierre, Eléonore, Gay-Bellile, Mathilde, Renaldo, Florence, Dorboz, Imen, Pagan, Cécile, Quentin, Samuel, Elmaleh, Monique, Kotsogianni, Christina, Konstantelou, Elissavet, Drunat, Séverine, Tabet, Anne-Claude, Boespflug-Tanguy, Odile
Publicado no BMC Med Genet (2015)