Articles by C Goizet (4)

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

C Goizet, A Boukhris, A Durr, C Beetz, J Truchetto, C Tesson, M Tsaousidou, S Forlani, L Guyant Marechal, B Fontaine, J Guimaraes, B Isidor, O Chazouilleres, D Wendum, D Grid, F Chevy, P. F Chinnery, P Coutinho, J. P Azulay, I Feki, F Mochel, C Wolf, C Mhiri, A Crosby, A Brice and G. Stevanin

Brain 132 ( 6 ): 1589 - 1600 , 2009

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases

P Labauge, L Horzinski, X Ayrignac, P Blanc, S Vukusic, D Rodriguez, F Mauguiere, L Peter, C Goizet, F Bouhour, C Denier, C Confavreux, M Obadia, F Blanc, J. d Seze, A Fogli and O. Boespflug Tanguy

Brain 132 ( 8 ): 2161 - 2169 , 2009

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J. P Delaunoy, M Fritsch, L Arning, M Synofzik, L Schols, J Sequeiros, C Goizet, C Marelli, I Le Ber, J Koht, J Gazulla, J De Bleecker, M Mukhtar, N Drouot, L Ali Pacha, T Benhassine, M Chbicheb, A M'Zahem, A Hamri, B Chabrol, J Pouget, R Murphy, M Watanabe, P Coutinho, M Tazir, A Durr, A Brice, C Tranchant and M. Koenig

Brain 132 ( 10 ): 2688 - 2698 , 2009

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

A Carre, G Szinnai, M Castanet, S Sura Trueba, E Tron, I Broutin L`Hermite, P Barat, C Goizet, D Lacombe, M. L Moutard, C Raybaud, C Raynaud Ravni, S Romana, H Ythier, J Leger and M. Polak

Human Molecular Genetics 18 ( 12 ): 2266 - 2276 , 2009