Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Autor: Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Denora, Paola S., Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad Hernandez, De Michele, G., Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Van Der Knapp, M. S., Marcella, Neri, Hassan, Tonekaboni, Melone, Mariarosa A. B., Alessandra, Tessa, Teresa Dotti, M., Michela, Tosetti, Pauri, Flavia, Antonio, Federico, Casali, Carlo, Cruz, Vitor T., Loureiro, Jose L., Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Alessandro, Filla, Alexis, Brice, Santorelli, Filippo M., Casali, C.

Publikováno v: neurogenetics
neurogenetics, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Neurogenetics, 7(3), 149-156. Springer Verlag
neurogenetics, Springer Verlag, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Stevanin, G, Montagna, G, Azzedine, H, Valente, E M, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P S, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, A M O, De Michele, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, Van Der Knapp, M S, Neri, M, Tonekaboni, H, Melone, M A B, Tessa, A, Dotti, M T, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, V T, Loureiro, J L, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A & Santorelli, F M 2006, ' Spastic paraplegia with thin corpus callosum : Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity ', Neurogenetics, vol. 7, no. 3, pp. 149-156 . https://doi.org/10.1007/s10048-006-0044-2

We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebf7945c57ed1d41b6e14833120c532f
http://hdl.handle.net/11365/23934