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Page 1
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR; French ALS Study Group. Corcia P, et al. Among authors: antar c. Neurology. 2006 Oct 10;67(7):1147-50. doi: 10.1212/01.wnl.0000233830.85206.1e. Epub 2006 Aug 23. Neurology. 2006. PMID: 16931506 Clinical Trial.
Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.
Martin I, Vourc'h P, Mahé M, Thépault RA, Antar C, Védrine S, Praline J, Camu W, Andres CR, Corcia P; French ALS Study Group. Martin I, et al. Among authors: antar c. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):432-5. doi: 10.3109/17482960802444972. Amyotroph Lateral Scler. 2009. PMID: 19922136
Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.
Corcia P, Ingre C, Blasco H, Press R, Praline J, Antar C, Veyrat-Durebex C, Guettard YO, Camu W, Andersen PM, Vourc'h P, Andres CR. Corcia P, et al. Among authors: antar c. Eur J Hum Genet. 2012 May;20(5):588-91. doi: 10.1038/ejhg.2011.255. Epub 2012 Jan 25. Eur J Hum Genet. 2012. PMID: 22274580 Free PMC article.
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.
Blasco H, Bernard-Marissal N, Vourc'h P, Guettard YO, Sunyach C, Augereau O, Khederchah J, Mouzat K, Antar C, Gordon PH, Veyrat-Durebex C, Besson G, Andersen PM, Salachas F, Meininger V, Camu W, Pettmann B, Andres CR, Corcia P; French ALS Study Group. Blasco H, et al. Among authors: antar c. Hum Mutat. 2013 Jul;34(7):953-60. doi: 10.1002/humu.22329. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23568759
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M. Laumonnier F, et al. Among authors: antar c. Mol Psychiatry. 2010 Jul;15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24. Mol Psychiatry. 2010. PMID: 19238151