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Results: 1-10 |
Results: 10

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: Baron-Delage, S Abadie, A Echaniz-Laguna, A Melki, J Beretta, L
Citation: S. Baron-delage et al., Interferons and IRF-1 induce expression of the survival motor neuron (SMN)genes, MOL MED, 6(11), 2000, pp. 957-968

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: Bartholdi, D Gonzalez, H Borg, K Melki, J
Citation: D. Bartholdi et al., Absence of SMN gene deletion in post-polio syndrome, NEUROMUSC D, 10(2), 2000, pp. 99-99

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: Melki, J
Citation: J. Melki, Molecular basis of spinal muscular atrophy: Recent advances, J CHILD NEU, 14(1), 1999, pp. 43-43

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
Risultati: 1-10 |