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90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands.
Merlini L, Estournet-Mathiaud B, Iannaccone S, Melki J, Muntoni F, Rudnik-Schöneborn S, Topaloglu H, Vita G, Voit T. Merlini L, et al. Among authors: melki j. Neuromuscul Disord. 2002 Feb;12(2):201-10. doi: 10.1016/s0960-8966(01)00272-3. Neuromuscul Disord. 2002. PMID: 11738364 Clinical Trial. No abstract available.
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.
Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. Bertini E, et al. Among authors: melki j. Neuromuscul Disord. 2005 Nov;15(11):802-16. doi: 10.1016/j.nmd.2005.07.005. Epub 2005 Oct 3. Neuromuscul Disord. 2005. PMID: 16202598 No abstract available.
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Zhou J, et al. Among authors: melki j. Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703880 Free PMC article.
Absence of SMN gene deletion in post-polio syndrome.
Bartholdi D, Gonzalez H, Borg K, Melki J. Bartholdi D, et al. Among authors: melki j. Neuromuscul Disord. 2000 Feb;10(2):99. doi: 10.1016/s0960-8966(99)00076-0. Neuromuscul Disord. 2000. PMID: 10714583 No abstract available.
253 results