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Mutations in DCC cause congenital mirror movements.
Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA. Srour M, et al. Among authors: rouleau ga. Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463. Science. 2010. PMID: 20431009
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
The 14q restless legs syndrome locus in the French Canadian population.
Levchenko A, Montplaisir JY, Dubé MP, Riviere JB, St-Onge J, Turecki G, Xiong L, Thibodeau P, Desautels A, Verlaan DJ, Rouleau GA. Levchenko A, et al. Among authors: rouleau ga. Ann Neurol. 2004 Jun;55(6):887-91. doi: 10.1002/ana.20140. Ann Neurol. 2004. PMID: 15174026
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.
Toulouse A, Au-Yeung F, Gaspar C, Roussel J, Dion P, Rouleau GA. Toulouse A, et al. Among authors: rouleau ga. Hum Mol Genet. 2005 Sep 15;14(18):2649-60. doi: 10.1093/hmg/ddi299. Epub 2005 Aug 8. Hum Mol Genet. 2005. PMID: 16087686
805 results