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收藏分享 收藏 Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
Hanein, Sylvain; Martin, Elodie; Boukhris, Amir; Byrne, Paula; Goizet, Cyril; Hamri, Abdelmadjid; Benomar, Ali; Lossos, Alexander; Denora, Paola; Fernandez, Jose; Elleuch, Nizar; Forlani, Sylvie; Durr, Alexandra; Feki, Imed; Hutchinson, Michael; Santorelli, Filippo M.; Mhiri, Chokri; Brice, Alexis; Stevanin, Giovanni 分享 收藏 A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3Hanein, Sylvain; Duerr, Alexandra; Ribai, Pascale; Forlani, Sylvie; Leutenegger, Anne-Louise; Nelson, Isabelle; Babron, Marie-Claude; Elleuch, Nizar; Depienne, Christel; Charon, Celine; Brice, Alexis; Stevanin, Giovanni 分享 收藏 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumStevanin, Giovanni; Santorelli, Filippo M.; Azzedine, Hamid; Coutinho, Paula; Chomilier, Jacques; Denora, Paola S.; Martin, Elodie; Ouvrard-Hernandez, Anne-Marie; Tessa, Alessandra; Bouslam, Naima; Lossos, Alexander; Charles, Perrine; Loureiro, Jose L.; Elleuch, Nizar; Confavreux, Christian; Cruz, Vitor T.; Ruberg, Merle; Leguern, Eric; Grid, Djamel; Tazir, Meriem; Fontaine, Bertrand; Filla, Alessandro; Bertini, Enrico; Durr, Alexandra; Brice, Alexis 分享 收藏 
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