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Items: 42

1.

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Hartley JN, Simard LR, Ly V, Del Bigio MR, Frosk P.

Am J Med Genet A. 2019 Feb;179(2):206-218. doi: 10.1002/ajmg.a.60690. Epub 2018 Dec 17.

PMID:
30556349
2.

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network.

Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18.

PMID:
28833236
3.

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.

Exp Neurol. 2016 May;279:13-26. doi: 10.1016/j.expneurol.2016.02.009. Epub 2016 Feb 15.

4.

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.

Renusch SR, Harshman S, Pi H, Workman E, Wehr A, Li X, Prior TW, Elsheikh BH, Swoboda KJ, Simard LR, Kissel JT, Battle D, Parthun MR, Freitas MA, Kolb SJ.

J Neuromuscul Dis. 2015 Jun 4;2(2):119-130.

5.

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

Tiziano FD, Melki J, Simard LR.

Am J Med Genet A. 2013 Nov;161A(11):2836-45. doi: 10.1002/ajmg.a.36251. Epub 2013 Oct 3. Review.

PMID:
24124019
6.

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T.

J Med Genet. 2013 Dec;50(12):819-22. doi: 10.1136/jmedgenet-2013-101715. Epub 2013 Sep 24.

PMID:
24065355
7.

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

Kissel JT, Elsheikh B, King WM, Freimer M, Scott CB, Kolb SJ, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators Network.

Muscle Nerve. 2014 Feb;49(2):187-92.

8.

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.

PLoS One. 2011;6(7):e21296. doi: 10.1371/journal.pone.0021296. Epub 2011 Jul 6.

9.

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

Swoboda KJ, Scott CB, Crawford TO, Simard LR, Reyna SP, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson SL, Maczulski JA, Bromberg MB, Chan GM, Kissel JT; Project Cure Spinal Muscular Atrophy Investigators Network.

PLoS One. 2010 Aug 19;5(8):e12140. doi: 10.1371/journal.pone.0012140.

10.

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.

Hum Mol Genet. 2010 Feb 1;19(3):454-67. doi: 10.1093/hmg/ddp510. Epub 2009 Nov 6.

11.

Phase II open label study of valproic acid in spinal muscular atrophy.

Swoboda KJ, Scott CB, Reyna SP, Prior TW, LaSalle B, Sorenson SL, Wood J, Acsadi G, Crawford TO, Kissel JT, Krosschell KJ, D'Anjou G, Bromberg MB, Schroth MK, Chan GM, Elsheikh B, Simard LR.

PLoS One. 2009;4(5):e5268. doi: 10.1371/journal.pone.0005268. Epub 2009 May 14.

12.

Adrenocortical functioning in boys with attention-deficit/hyperactivity disorder: examining subtypes of ADHD and associated comorbid conditions.

Hastings PD, Fortier I, Utendale WT, Simard LR, Robaey P.

J Abnorm Child Psychol. 2009 May;37(4):565-78. doi: 10.1007/s10802-008-9292-y.

PMID:
19132527
13.

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

Nadeau A, D'Anjou G, Debray G, Robitaille Y, Simard LR, Vanasse M.

J Child Neurol. 2007 Nov;22(11):1301-4.

PMID:
18006961
14.

Perspectives on clinical trials in spinal muscular atrophy.

Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D'Anjou G, Krosschell KJ, Reyna SP, Schroth MK, Scott CB, Simard LR.

J Child Neurol. 2007 Aug;22(8):957-66. Review.

15.

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.

Simard LR, Bélanger MC, Morissette S, Wride M, Prior TW, Swoboda KJ.

Neurology. 2007 Feb 6;68(6):451-6.

16.
17.
18.

Spinal muscular atrophy.

Iannaccone ST, Smith SA, Simard LR.

Curr Neurol Neurosci Rep. 2004 Jan;4(1):74-80. Review.

PMID:
14683633
20.

The SMN genes are subject to transcriptional regulation during cellular differentiation.

Germain-Desprez D, Brun T, Rochette C, Semionov A, Rouget R, Simard LR.

Gene. 2001 Nov 28;279(2):109-17.

PMID:
11733135
21.
22.

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.

Neurogenetics. 1997 Sep;1(2):141-7.

PMID:
10732817
23.

Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn).

DiDonato CJ, Brun T, Simard LR.

Mamm Genome. 1999 Jun;10(6):638-41. No abstract available.

PMID:
10341102
24.

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

Howell PL, Turner MA, Christodoulou J, Walker DC, Craig HJ, Simard LR, Ploder L, McInnes RR.

J Inherit Metab Dis. 1998;21 Suppl 1:72-85. Review.

PMID:
9686346
25.

Novel 3678delA mutation in exon 26 of the dystrophin gene causing Duchenne muscular dystrophy.

Agarwal-Mawal A, Vanasse M, Simard LR.

Hum Mutat. 1998;Suppl 1:S23-4. No abstract available.

PMID:
9452029
26.

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.

Am J Med Genet. 1997 Oct 3;72(1):51-8.

PMID:
9295075
27.

Genetic and physical mapping of the mouse host resistance locus Lgn1.

Diez E, Beckers MC, Ernst E, DiDonato CJ, Simard LR, Morissette C, Gervais F, Yoshida SI, Gros P.

Mamm Genome. 1997 Sep;8(9):682-5. No abstract available.

PMID:
9271671
28.

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.

Am J Hum Genet. 1997 Jun;60(6):1411-22.

29.

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene.

DiDonato CJ, Chen XN, Noya D, Korenberg JR, Nadeau JH, Simard LR.

Genome Res. 1997 Apr;7(4):339-52.

30.

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.

Walker DC, Christodoulou J, Craig HJ, Simard LR, Ploder L, Howell PL, McInnes RR.

J Biol Chem. 1997 Mar 7;272(10):6777-83.

31.

The mouse neuronal apoptosis inhibitory protein gene maps to a conserved syntenic region of mouse chromosome 13.

DiDonato CJ, Nadeau JH, Simard LR.

Mamm Genome. 1997 Mar;8(3):222. No abstract available.

PMID:
9069126
32.

Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy.

Souchon F, Simard LR, Lebrun S, Rochette C, Lambert J, Vanasse M.

Neuromuscul Disord. 1996 Dec;6(6):419-24.

PMID:
9027849
33.

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.

Hum Mol Genet. 1995 Aug;4(8):1273-84.

PMID:
7581364
34.

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.

Nat Genet. 1995 Jan;9(1):56-62.

PMID:
7704025
35.

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population.

Simard LR, Prescott G, Rochette C, Morgan K, Lemieux B, Mathieu J, Melançon SB, Vanasse M.

Hum Mol Genet. 1994 Mar;3(3):459-63.

PMID:
8012358
36.

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families.

Simard LR, Vanasse M, Rochette C, Morgan K, Lemieux B, Melançon SB, Labuda D.

Genomics. 1992 Sep;14(1):188-90.

PMID:
1427826
37.

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec.

Simard LR, Gingras F, Delvoye N, Vanasse M, Melançon SB, Labuda D.

Hum Genet. 1992 Jun;89(4):419-24.

PMID:
1618490
38.

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism.

Zietkiewicz E, Simard LR, Melançon SB, Vanasse M, Labuda D.

Lancet. 1992 Jan 11;339(8785):134. No abstract available.

PMID:
1345868
39.

Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy.

Simard LR, Gingras F, Labuda D.

Nucleic Acids Res. 1991 May 11;19(9):2501. No abstract available.

40.

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

Walker DC, McCloskey DA, Simard LR, McInnes RR.

Proc Natl Acad Sci U S A. 1990 Dec;87(24):9625-9.

41.

Alumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers.

Sinnett D, Deragon JM, Simard LR, Labuda D.

Genomics. 1990 Jul;7(3):331-4.

PMID:
1973138
42.

Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines.

Lambert MA, Simard LR, Ray PN, McInnes RR.

Mol Cell Biol. 1986 May;6(5):1722-8.

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