Simard LR - Search Results

1

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH. McAndrew PE, et al. Among authors: simard lr. Am J Hum Genet. 1997 Jun;60(6):1411-22. doi: 10.1086/515465. Am J Hum Genet. 1997. PMID: 9199562 Free PMC article.

2

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.

Butchbach ME, Singh J, Thorsteinsdóttir M, Saieva L, Slominski E, Thurmond J, Andrésson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME. Butchbach ME, et al. Among authors: simard lr. Hum Mol Genet. 2010 Feb 1;19(3):454-67. doi: 10.1093/hmg/ddp510. Epub 2009 Nov 6. Hum Mol Genet. 2010. PMID: 19897588 Free PMC article.

3

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

Rochette CF, Gilbert N, Simard LR. Rochette CF, et al. Among authors: simard lr. Hum Genet. 2001 Mar;108(3):255-66. doi: 10.1007/s004390100473. Hum Genet. 2001. PMID: 11354640

4

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AH, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ. Thompson TG, et al. Among authors: simard lr. Nat Genet. 1995 Jan;9(1):56-62. doi: 10.1038/ng0195-56. Nat Genet. 1995. PMID: 7704025

5

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.

McLean MD, Roy N, MacKenzie AE, Salih M, Burghes AH, Simard L, Korneluk RG, Ikeda JE, Surh L. McLean MD, et al. Hum Mol Genet. 1994 Nov;3(11):1951-6. doi: 10.1093/hmg/3.11.1951. Hum Mol Genet. 1994. PMID: 7874111

6

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AH. Wirth B, et al. Among authors: simard lr. Hum Mol Genet. 1995 Aug;4(8):1273-84. doi: 10.1093/hmg/4.8.1273. Hum Mol Genet. 1995. PMID: 7581364

7

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.

Simard LR, Rochette C, Semionov A, Morgan K, Vanasse M. Simard LR, et al. Am J Med Genet. 1997 Oct 3;72(1):51-8. doi: 10.1002/(sici)1096-8628(19971003)72:1<51::aid-ajmg11>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9295075

8

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

Rochette CF, Surh LC, Ray PN, McAndrew PE, Prior TW, Burghes AH, Vanasse M, Simard LR. Rochette CF, et al. Among authors: simard lr. Neurogenetics. 1997 Sep;1(2):141-7. doi: 10.1007/s100480050021. Neurogenetics. 1997. PMID: 10732817

9

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.

Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Bromberg MB, Chan GM, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators' Network. Kissel JT, et al. Among authors: simard lr. PLoS One. 2011;6(7):e21296. doi: 10.1371/journal.pone.0021296. Epub 2011 Jul 6. PLoS One. 2011. PMID: 21754985 Free PMC article. Clinical Trial.

10

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Butchbach MER, Lumpkin CJ, Harris AW, Saieva L, Edwards JD, Workman E, Simard LR, Pellizzoni L, Burghes AHM. Butchbach MER, et al. Among authors: simard lr. Exp Neurol. 2016 May;279:13-26. doi: 10.1016/j.expneurol.2016.02.009. Epub 2016 Feb 15. Exp Neurol. 2016. PMID: 26892876 Free PMC article.

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