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Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S. Stum M, et al. Among authors: nicole s. Hum Mutat. 2006 Nov;27(11):1082-91. doi: 10.1002/humu.20388. Hum Mutat. 2006. PMID: 16927315
The molecular bases of spinal muscular atrophy.
Frugier T, Nicole S, Cifuentes-Diaz C, Melki J. Frugier T, et al. Among authors: nicole s. Curr Opin Genet Dev. 2002 Jun;12(3):294-8. doi: 10.1016/s0959-437x(02)00301-5. Curr Opin Genet Dev. 2002. PMID: 12076672 Review.
Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers.
Ferry A, Joanne P, Hadj-Said W, Vignaud A, Lilienbaum A, Hourdé C, Medja F, Noirez P, Charbonnier F, Chatonnet A, Chevessier F, Nicole S, Agbulut O, Butler-Browne G. Ferry A, et al. Among authors: nicole s. Neuromuscul Disord. 2014 Nov;24(11):960-72. doi: 10.1016/j.nmd.2014.06.001. Epub 2014 Jun 10. Neuromuscul Disord. 2014. PMID: 25042397
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
87 results