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Molecular aspects of hereditary spastic paraplegia.
Noreau A, Dion PA, Rouleau GA. Noreau A, et al. Exp Cell Res. 2014 Jul 1;325(1):18-26. doi: 10.1016/j.yexcr.2014.02.021. Epub 2014 Mar 11. Exp Cell Res. 2014. PMID: 24631291 Review.
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Valdmanis PN, et al. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 Dec 1. Am J Hum Genet. 2007. PMID: 17160902 Free PMC article.
Characterization of a novel SPG3A deletion in a French-Canadian family.
Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Meijer IA, et al. Ann Neurol. 2007 Jun;61(6):599-603. doi: 10.1002/ana.21114. Ann Neurol. 2007. PMID: 17427918
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA. Shekarabi M, et al. J Clin Invest. 2008 Jul;118(7):2496-505. doi: 10.1172/JCI34088. J Clin Invest. 2008. PMID: 18521183 Free PMC article.
Mutations in FUS cause FALS and SALS in French and French Canadian populations.
Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J; S2D team, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupré N, Rouleau GA. Belzil VV, et al. Neurology. 2009 Oct 13;73(15):1176-9. doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9. Neurology. 2009. PMID: 19741216 Free PMC article.
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
Dion PA, Daoud H, Rouleau GA. Dion PA, et al. Nat Rev Genet. 2009 Nov;10(11):769-82. doi: 10.1038/nrg2680. Epub 2009 Oct 13. Nat Rev Genet. 2009. PMID: 19823194 Review.
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders.
Merner ND, Dion PA, Rouleau GA. Merner ND, et al. Clin Genet. 2011 Jan;79(1):23-34. doi: 10.1111/j.1399-0004.2010.01591.x. Clin Genet. 2011. PMID: 21143467
LINGO1 variants in the French-Canadian population.
Bourassa CV, Rivière JB, Dion PA, Bernard G, Diab S, Panisset M, Chouinard S, Dupré N, Fournier H, Raelson J, Belouchi M, Rouleau GA. Bourassa CV, et al. PLoS One. 2011 Jan 11;6(1):e16254. doi: 10.1371/journal.pone.0016254. PLoS One. 2011. PMID: 21264305 Free PMC article.
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA. Salin-Cantegrel A, et al. J Biol Chem. 2011 Aug 12;286(32):28456-65. doi: 10.1074/jbc.M111.226894. Epub 2011 May 31. J Biol Chem. 2011. PMID: 21628467 Free PMC article.
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. Rivière JB, et al. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820098 Free PMC article.
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