Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

par Moghadaszadeh, B, Desguerre, I, Topaloglu, H, Muntoni, F, Pavek, S, Sewry, C, Mayer, M, Fardeau, M, Tomé, F M, Guicheney, P
Publié 1998

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.

par Matsumura, K, Burghes, A H, Mora, M, Tomé, F M, Morandi, L, Cornello, F, Leturcq, F, Jeanpierre, M, Kaplan, J C, Reinert, P
Publié 1994

Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.

par Matsumura, K, Nonaka, I, Tomé, F M, Arahata, K, Collin, H, Leturcq, F, Récan, D, Kaplan, J C, Fardeau, M, Campbell, K P
Publié 1993

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

par Matsumura, K, Tomé, F M, Ionasescu, V, Ervasti, J M, Anderson, R D, Romero, N B, Simon, D, Récan, D, Kaplan, J C, Fardeau, M
Publié 1993

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

par Nissinen, M., Helbling-Leclerc, A., Zhang, X., Evangelista, T., Topaloglu, H., Cruaud, C., Weissenbach, J., Fardeau, M., Tomé, F. M., Schwartz, K., Tryggvason, K., Guicheney, P.
Publié 1996

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

par Carrié, A, Piccolo, F, Leturcq, F, de Toma, C, Azibi, K, Beldjord, C, Vallat, J M, Merlini, L, Voit, T, Sewry, C, Urtizberea, J A, Romero, N, Tomé, F M, Fardeau, M, Sunada, Y, Campbell, K P, Kaplan, J C, Jeanpierre, M
Publié 1997

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

par Guicheney, P, Vignier, N, Zhang, X, He, Y, Cruaud, C, Frey, V, Helbling-Leclerc, A, Richard, P, Estournet, B, Merlini, L, Topaloglu, H, Mora, M, Harpey, J P, Haenggeli, C A, Barois, A, Hainque, B, Schwartz, K, Tomé, F M, Fardeau, M, Tryggvason, K
Publié 1998