Authors:
Puccio, H
Simon, D
Cossee, M
Criqui-Filipe, P
Tiziano, F
Melki, J
Hindelang, C
Matyas, R
Rustin, P
Koenig, M
Citation: H. Puccio et al., Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits, NAT GENET, 27(2), 2001, pp. 181-186
Authors:
Frugier, T
Cifuentes-Diaz, C
Tiziano, FD
Melki, J
Citation: T. Frugier et al., Animal models of spinal muscular atrophies: towards a better understandingof pathophysiology and development of therapeutics, M S-MED SCI, 17(6-7), 2001, pp. 737-743
Authors:
Skordis, LA
Dunckley, MG
Burglen, L
Campbell, L
Talbot, K
Patel, S
Melki, J
Davies, KE
Dubowitz, V
Muntoni, F
Citation: La. Skordis et al., Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA, HUM GENET, 108(4), 2001, pp. 356-357
Authors:
Cifuentes-Diaz, C
Frugier, T
Tiziano, FD
Lacene, E
Roblot, N
Joshi, V
Moreau, MH
Melki, J
Citation: C. Cifuentes-diaz et al., Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy, J CELL BIOL, 152(5), 2001, pp. 1107-1114
Authors:
Frugier, T
Tiziano, FD
Cifuentes-Diaz, C
Miniou, P
Roblot, N
Dierich, A
Le Meur, M
Melki, J
Citation: T. Frugier et al., Nuclear targeting defect of SMN lacking the C-terminus in a mouse model ofspinal muscular atrophy, HUM MOL GEN, 9(5), 2000, pp. 849-858
Authors:
Peillon, C
D'Hont, C
Melki, J
Fattouh, F
Perrier, G
Dujon, A
Testart, J
Citation: C. Peillon et al., Usefulness of video thoracoscopy in the management of spontaneous and postoperation chylothorax, SURG ENDOSC, 13(11), 1999, pp. 1106-1109
Authors:
Echaniz-Laguna, A
Miniou, P
Bartholdi, D
Melki, J
Citation: A. Echaniz-laguna et al., The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements, AM J HU GEN, 64(5), 1999, pp. 1365-1370