Results 181 to 188 of about 2,774 (188)
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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Nature Genetics, 2007 G. Stevanin, F. Santorelli, H. Azzedine, P. Coutinho, J. Chomilier, P. Denora, E. Martin, A. Ouvrard-Hernandez, A. Tessa, N. Bouslam, A. Lossos, P. Charles, J. Loureiro, N. Elleuch, C. Confavreux, V. Cruz, M. Ruberg, E. Leguern, D. Grid, M. Tazir, B. Fontaine, A. Filla, E. Bertini, A. Durr, A. Brice +24 moresemanticscholar +1 more sourceThe gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
Nature Genetics, 2000 P. Bomont, L. Cavalier, F. Blondeau, C. Hamida, S. Belal, M. Tazir, E. Demir, H. Topaloğlu, R. Korinthenberg, B. Tüysüz, P. Landrieu, F. Hentati, M. Koenig +12 moresemanticscholar +1 more sourceMutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Brain : a journal of neurology, 2008 G. Stevanin, H. Azzedine, P. Denora, A. Boukhris, M. Tazir, A. Lossos, A. Rosa, I. Lerer, A. Hamri, P. Alegria, J. Loureiro, M. Tada, D. Hannequin, M. Anheim, C. Goizet, V. González-Martínez, I. Le Ber, S. Forlani, K. Iwabuchi, V. Meiner, G. Uyanik, A. Erichsen, I. Feki, F. Pasquier, S. Belarbi, V. Cruz, C. Depienne, J. Truchetto, G. Garrigues, C. Tallaksen, C. Tranchant, M. Nishizawa, J. Vale, P. Coutinho, F. Santorelli, C. Mhiri, A. Brice, A. Durr +37 moresemanticscholar +1 more source
