Dion PA - Search Results

1

Exome sequencing identifies FUS mutations as a cause of essential tremor.

Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA. Merner ND, et al. Among authors: dion pa. Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863194 Free PMC article.

2

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

3

Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.

Fan X, Dion P, Laganiere J, Brais B, Rouleau GA. Fan X, et al. Hum Mol Genet. 2001 Oct 1;10(21):2341-51. doi: 10.1093/hmg/10.21.2341. Hum Mol Genet. 2001. PMID: 11689481

4

HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.

Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA. Fan X, et al. Can J Neurol Sci. 2003 Aug;30(3):244-51. doi: 10.1017/s0317167100002675. Can J Neurol Sci. 2003. PMID: 12945950

5

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. 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

6

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.

Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D, Saint-Onge J, Flury L, Brown NJ, Gainer JV, Rouleau JL, Agostoni A, Cugno M, Simon P, Clavel P, Potier J, Wehbe B, Benarbia S, Marc-Aurele J, Chanard J, Foroud T, Adam A, Rouleau GA. Duan QL, et al. Am J Hum Genet. 2005 Oct;77(4):617-26. doi: 10.1086/496899. Epub 2005 Sep 1. Am J Hum Genet. 2005. PMID: 16175507 Free PMC article.

7

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Gros-Louis F, et al. Nat Genet. 2007 Jan;39(1):80-5. doi: 10.1038/ng1927. Epub 2006 Dec 10. Nat Genet. 2007. PMID: 17159980

8

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. Among authors: dion pa. 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.

9

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.

Messaed C, Dion PA, Abu-Baker A, Rochefort D, Laganiere J, Brais B, Rouleau GA. Messaed C, et al. Among authors: dion pa. Neurobiol Dis. 2007 Jun;26(3):546-57. doi: 10.1016/j.nbd.2007.02.004. Epub 2007 Feb 15. Neurobiol Dis. 2007. PMID: 17418585

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

218 results

Search Page

Filters