SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Por Hanash, A, Leguern, E, Birouk, N, Clermont, O, Pouget, J, Bouche, P, Munnich, A, Brice, A, Melki, J
Publicado em 1997

High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.

Por Rouger, H., LeGuern, E., Gouider, R., Tardieu, S., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A.
Publicado em 1996

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure...

Por Lopes, J., LeGuern, E., Gouider, R., Tardieu, S., Abbas, N., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A.
Publicado em 1996

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

Por Meggouh, F, Benomar, A, Rouger, H, Tardieu, S, Birouk, N, Tassin, J, Barhoumi, C, Yahyaoui, M, Chkili, T, Brice, A, LeGuern, E
Publicado em 1998

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Por Bouhouche, A, Benomar, A, Birouk, N, Mularoni, A, Meggouh, F, Tassin, J, Grid, D, Vandenberghe, A, Yahyaoui, M, Chkili, T, Brice, A, LeGuern, E
Publicado em 1999

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated w...

Por Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.
Publicado em 2003