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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. 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.
Amyotrophic lateral sclerosis: a hormonal condition?
Blasco H, Guennoc AM, Veyrat-Durebex C, Gordon PH, Andres CR, Camu W, Corcia P. Blasco H, et al. Amyotroph Lateral Scler. 2012 Oct;13(6):585-8. doi: 10.3109/17482968.2012.706303. Epub 2012 Aug 8. Amyotroph Lateral Scler. 2012. PMID: 22873563 Review.
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. Hum Mutat. 2013 Jul;34(7):953-60. doi: 10.1002/humu.22329. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23568759
[Investigation of hyperhomocysteinemia].
Veyrat-Durebex C, Blasco H, Crinier J, Vayne C, Emond P, Labarthe F, Andres CR, Maillot F. Veyrat-Durebex C, et al. Ann Biol Clin (Paris). 2013 Sep-Oct;71(5):517-25. doi: 10.1684/abc.2013.0879. Ann Biol Clin (Paris). 2013. PMID: 24113437 Free article. Review. French.
106 results