Gaspar C - Search Results

1

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: gaspar c. 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

2

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

Stochmanski SJ, Therrien M, Laganière J, Rochefort D, Laurent S, Karemera L, Gaudet R, Vyboh K, Van Meyel DJ, Di Cristo G, Dion PA, Gaspar C, Rouleau GA. Stochmanski SJ, et al. Among authors: gaspar c. Hum Mol Genet. 2012 May 15;21(10):2211-8. doi: 10.1093/hmg/dds036. Epub 2012 Feb 14. Hum Mol Genet. 2012. PMID: 22337953

3

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).

Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, Ranum LP, Pulst SM, Rouleau GA. Hayes S, et al. Among authors: gaspar c. Hum Mol Genet. 2000 Jul 22;9(12):1753-8. doi: 10.1093/hmg/9.12.1753. Hum Mol Genet. 2000. PMID: 10915763

4

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation.

Gaspar C, Jannatipour M, Dion P, Laganière J, Sequeiros J, Brais B, Rouleau GA. Gaspar C, et al. Hum Mol Genet. 2000 Aug 12;9(13):1957-66. doi: 10.1093/hmg/9.13.1957. Hum Mol Genet. 2000. PMID: 10942424

5

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.

Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA. Abu-Baker A, et al. Among authors: gaspar c. Hum Mol Genet. 2003 Oct 15;12(20):2609-23. doi: 10.1093/hmg/ddg293. Epub 2003 Aug 27. Hum Mol Genet. 2003. PMID: 12944420

6

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice.

Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA. Dion P, et al. Among authors: gaspar c. Neurobiol Dis. 2005 Apr;18(3):528-36. doi: 10.1016/j.nbd.2004.09.021. Neurobiol Dis. 2005. PMID: 15755680

7

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA. Salin-Cantegrel A, et al. Among authors: gaspar c. Hum Mol Genet. 2008 Sep 1;17(17):2703-11. doi: 10.1093/hmg/ddn172. Epub 2008 Jun 19. Hum Mol Genet. 2008. PMID: 18566107

8

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

Xiong L, Catoire H, Dion P, Gaspar C, Lafrenière RG, Girard SL, Levchenko A, Rivière JB, Fiori L, St-Onge J, Bachand I, Thibodeau P, Allen R, Earley C, Turecki G, Montplaisir J, Rouleau GA. Xiong L, et al. Among authors: gaspar c. Hum Mol Genet. 2009 Mar 15;18(6):1065-74. doi: 10.1093/hmg/ddn443. Epub 2009 Jan 6. Hum Mol Genet. 2009. PMID: 19126776 Free PMC article.

9

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.

Gaspar C, Lopes-Cendes I, DeStefano AL, Maciel P, Silveira I, Coutinho P, MacLeod P, Sequeiros J, Farrer LA, Rouleau GA. Gaspar C, et al. Hum Genet. 1996 Nov;98(5):620-4. doi: 10.1007/s004390050270. Hum Genet. 1996. PMID: 8882886

10

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA. Silveira I, et al. Among authors: gaspar c. Am J Med Genet. 1998 Mar 28;81(2):134-8. doi: 10.1002/(sici)1096-8628(19980328)81:2<134::aid-ajmg3>3.0.co;2-w. Am J Med Genet. 1998. PMID: 9613852

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