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KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F. Bowerman M, et al. Among authors: rouleau ga. Neurobiol Dis. 2017 Oct;106:35-48. doi: 10.1016/j.nbd.2017.06.013. Epub 2017 Jun 21. Neurobiol Dis. 2017. PMID: 28647557
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH Jr, Meininger V, Camu W, Rouleau GA. Hand CK, et al. Among authors: rouleau ga. Am J Hum Genet. 2002 Jan;70(1):251-6. doi: 10.1086/337945. Epub 2001 Nov 9. Am J Hum Genet. 2002. PMID: 11706389 Free PMC article.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. Howard HC, et al. Among authors: rouleau ga. Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7. Nat Genet. 2002. PMID: 12368912
[Severe neuropathy with agenesis of the corpus callosum].
Howard HC, Dupré N, Mathieu J, Bouchard JP, Rouleau GA. Howard HC, et al. Among authors: rouleau ga. Med Sci (Paris). 2003 Apr;19(4):414-6. doi: 10.1051/medsci/2003194414. Med Sci (Paris). 2003. PMID: 12836214 Free article. French. No abstract available.
[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature].
Jafari-Schluep HF, Khoris J, Mayeux-Portas V, Hand C, Rouleau G, Camu W; Groupe Français d'Etude des Maladies du Motoneurone. Jafari-Schluep HF, et al. Rev Neurol (Paris). 2004 Jan;160(1):44-50. doi: 10.1016/s0035-3787(04)70846-2. Rev Neurol (Paris). 2004. PMID: 14978393 Review. French.
816 results