Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cell...

Por Mimault, C, Giraud, G, Courtois, V, Cailloux, F, Boire, J Y, Dastugue, B, Boespflug-Tanguy, O
Publicado em 1999

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

Por Kammoun, F, de Roux, N, Boespflug-Tanguy, O, Vallee, L, Seng, R, Tardieu, M, Landrieu, P
Publicado em 2004

Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

Por Boespflug-Tanguy, O., Mimault, C., Melki, J., Cavagna, A., Giraud, G., Pham Dinh, D., Dastugue, B., Dautigny, A.
Publicado em 1994

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.

Por Pham-Dinh, D, Popot, J L, Boespflug-Tanguy, O, Landrieu, P, Deleuze, J F, Boué, J, Jollès, P, Dautigny, A
Publicado em 1991

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

Por Vanderver, A., Hathout, Y., Maletkovic, J., Gordon, E.S., Mintz, M., Timmons, M., Hoffman, E.P., Horzinski, L., Niel, F., Fogli, A., Boespflug-Tanguy, O., Schiffmann, R.
Publicado em 2008

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

Por des Portes, V, Pinard, J M, Smadja, D, Motte, J, Boespflüg-Tanguy, O, Moutard, M L, Desguerre, I, Billuart, P, Carrie, A, Bienvenu, T, Vinet, M C, Bachner, L, Beldjord, C, Dulac, O, Kahn, A, Ponsot, G, Chelly, J
Publicado em 1997

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

Por Buret, L, Rebillard, G, Brun, E, Angebault, C, Pequignot, M, Lenoir, M, Do-cruzeiro, M, Tournier, E, Cornille, K, Saleur, A, Gueguen, N, Reynier, P, Amati-Bonneau, P, Barakat, A, Blanchet, C, Chinnery, P, Yu-Wai-Man, P, Kaplan, J, Roux, A-F, Van Camp, G, Wissinger, B, Boespflug-Tanguy, O, Giraudet, F, Puel, J-L, Lenaers, G, Hamel, C, Delprat, B, Delettre, C
Publicado no Cell Death Discov (2016)