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Louise Simard

Research Profile

Chemicals & Drugs

Disorders

Anatomy

Chromosomes, Human, Pair 5

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Mouse

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Physiology

Transcription, Genetic

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Chromosome Mapping

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Publications

TOP 3
John T Kissel; Kristin J Krosschell; Bernard LaSalle; Jo Anne Maczulski; Thomas W Prior; Sandra P Reyna; Mary K Schroth; Charles B Scott; Louise R Simard; Susan Sorenson; Kathryn J Swoboda; Gyula Acsadi; Mark B Bromberg; Gary M Chan; Thomas Crawford; Guy D'Anjou; Bakri Elsheik
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.
Matthew E R Butchbach; Jasbir Singh; Margrét Thorsteinsdóttir; Luciano Saieva; Elzbieta Slominski; Jennifer M Thurmond; Thorkell Andrésson; Jun Zhang; Jonathan D Edwards; Louise R Simard; Livio Pellizzoni; Jill Jarecki; Arthur H M Burghes; Mark E Gurney
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
Kathryn J Swoboda; Charles B Scott; Thomas Crawford; Louise R Simard; Sandra P Reyna; Kristin J Krosschell; Gyula Acsadi; Bakri Elsheik; Mary K Schroth; Guy D'Anjou; Bernard LaSalle; Thomas W Prior; Susan L Sorenson; Jo Anne Maczulski; Mark B Bromberg; Gary M Chan; John T Kissel
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

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All Publications

2011: John T Kissel; Kristin J Krosschell; Bernard LaSalle; Jo Anne Maczulski; Thomas W Prior; Sandra P Reyna; Mary K Schroth; Charles B Scott; Louise R Simard; Susan Sorenson; Kathryn J Swoboda; Gyula Acsadi; Mark B Bromberg; Gary M Chan; Thomas Crawford; Guy D'Anjou; Bakri Elsheik
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.
PloS one 2011;6(7):e21296.
2010: Matthew E R Butchbach; Jasbir Singh; Margrét Thorsteinsdóttir; Luciano Saieva; Elzbieta Slominski; Jennifer M Thurmond; Thorkell Andrésson; Jun Zhang; Jonathan D Edwards; Louise R Simard; Livio Pellizzoni; Jill Jarecki; Arthur H M Burghes; Mark E Gurney
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
Human molecular genetics 2010;19(3):454-67.
2010: Kathryn J Swoboda; Charles B Scott; Thomas Crawford; Louise R Simard; Sandra P Reyna; Kristin J Krosschell; Gyula Acsadi; Bakri Elsheik; Mary K Schroth; Guy D'Anjou; Bernard LaSalle; Thomas W Prior; Susan L Sorenson; Jo Anne Maczulski; Mark B Bromberg; Gary M Chan; John T Kissel
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.
PloS one 2010;5(8):e12140.
2009: Kathryn J Swoboda; Charles B Scott; Sandra P Reyna; Thomas W Prior; Bernard LaSalle; Susan L Sorenson; Janine Wood; Gyula Acsadi; Thomas Crawford; John T Kissel; Kristin J Krosschell; Guy D'Anjou; Mark B Bromberg; Mary K Schroth; Gary M Chan; Bakri Elsheikh; Louise R Simard
Phase II open label study of valproic acid in spinal muscular atrophy.
PloS one 2009;4(5):e5268.
2007: Amelie Nadeau; Guy D'Anjou; Guillaume Debray; Yves Robitaille; Louise R Simard; Michel Vanasse
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.
Journal of child neurology 2007;22(11):1301-4.
2007: Kathryn J Swoboda; John T Kissel; Thomas O Crawford; Mark B Bromberg; Gyula Acsadi; Guy D'Anjou; Kristin J Krosschell; Sandra P Reyna; Mary K Schroth; Charles B Scott; Louise R Simard
Perspectives on clinical trials in spinal muscular atrophy.
Journal of child neurology 2007;22(8):957-66.
2007: Louise R Simard; M-C Bélanger; S Morissette; Mark C Wride; Thomas W Prior; Kathryn J Swoboda
Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.
Neurology 2007;68(6):451-6.
2005: Evdokia Anagnostou; Steven P Miller; Marie-Christine Guiot; George Karpati; Louise R Simard; Marie-Emmanuelle Dilenge; Michael I Shevell
Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy.
Journal of child neurology 2005;20(2):147-50.
2005: Raphaël Rouget; François Vigneault; Circé Codio; Camille Rochette; Isabelle Paradis; Régen Drouin; Louise R Simard
Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells.
The Biochemical journal 2005;385(Pt 2):433-43.
2002: Li Fan; Louise R Simard
Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.
Human molecular genetics 2002;11(14):1605-14.
2001: Delphine Germain-Desprez; Thierry Brun; Camille Rochette; A Semionov; R Rouget; Louise R Simard
The SMN genes are subject to transcriptional regulation during cellular differentiation.
Gene 2001;279(2):109-17.
2001: Christine J DiDonato; Christian L Lorson; Yves De Repentigny; Louise R Simard; C Chartrand; Elliot J Androphy; Rashmi Kothary
Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.
Human molecular genetics 2001;10(23):2727-36.
2001: Camille Rochette; N Gilbert; Louise R Simard
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.
Human genetics 2001;108(3):255-66.
1999: CJ DiDonato; Thierry Brun; Louise R Simard
Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn).
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(6):638-41.
1998: A Agarwal-Mawal; Michel Vanasse; Louise R Simard
Novel 3678delA mutation in exon 26 of the dystrophin gene causing Duchenne muscular dystrophy.
Human mutation 1998;Suppl 1():S23-4.
1997: Louise R Simard; Camille Rochette; A Semionov; K Morgan; Michel Vanasse
SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.
American journal of medical genetics 1997;72(1):51-8.
1997: Camille Rochette; L C Surh; Peter N Ray; PE McAndrew; Thomas W Prior; Arthur H M Burghes; Michel Vanasse; Louise R Simard
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
Neurogenetics 1997;1(2):141-7.
1997: Eduardo Diez; M C Beckers; E Ernst; CJ DiDonato; Louise R Simard; Céline Morissette; Francine Gervais; S I Yoshida; Philippe Gros
Genetic and physical mapping of the mouse host resistance locus Lgn1.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(9):682-5.
1997: PE McAndrew; DONALD PARSONS; Louise R Simard; Camille Rochette; Peter N Ray; Jerry R Mendell; Thomas W Prior; Arthur H M Burghes
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
American journal of human genetics 1997;60(6):1411-22.
1997: CJ DiDonato; Xiao-Ning Chen; D Noya; Julie R Korenberg; J H Nadeau; Louise R Simard
Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene.
Genome research 1997;7(4):339-52.
1997: CJ DiDonato; J H Nadeau; Louise R Simard
The mouse neuronal apoptosis inhibitory protein gene maps to a conserved syntenic region of mouse chromosome 13.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(3):222.
1996: F Souchon; Louise R Simard; S Lebrun; Camille Rochette; J Lambert; Michel Vanasse
Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy.
Neuromuscular disorders : NMD 1996;6(6):419-24.
1995: Brunhilde Wirth; eric hahnen; K Morgan; CJ DiDonato; A Dadze; Sabine Rudnik-Schöneborn; Louise R Simard; Klaus Zerres; Arthur H M Burghes
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
Human molecular genetics 1995;4(8):1273-84.
1995: T G Thompson; CJ DiDonato; Louise R Simard; S E Ingraham; Arthur H M Burghes; Thomas Crawford; Camille Rochette; Jerry R Mendell; JJ Wasmuth
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.
Nature genetics 1995;9(1):56-62.
1994: M D McLean; N Roy; Alex E MacKenzie; M Salih; Arthur H M Burghes; Louise R Simard; Robert G Korneluk; Joh-E Ikeda; LC Surh
Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.
Human molecular genetics 1994;3(11):1951-6.
1994: Louise R Simard; G Prescott; Camille Rochette; K Morgan; B Lemieux; J Mathieu; SB Melançon; Michel Vanasse
Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population.
Human molecular genetics 1994;3(3):459-63.
1992: Louise R Simard; Michel Vanasse; Camille Rochette; K Morgan; B Lemieux; SB Melançon; Damian Labuda
Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families.
Genomics 1992;14(1):188-90.
1992: Louise R Simard; F Gingras; N Delvoye; Michel Vanasse; SB Melançon; Damian Labuda
Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec.
Human genetics 1992;89(4):419-24.
1992: Ewa Zietkiewicz; Louise R Simard; SB Melançon; Michel Vanasse; Damian Labuda
Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism.
Lancet 1992;339(8785):134.
1991: Louise R Simard; F Gingras; Damian Labuda
Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy.
Nucleic acids research 1991;19(9):2501.
1990: D C Walker; D A McCloskey; Louise R Simard; Roderick R McInnes
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(24):9625-9.
1990: Daniel Sinnett; J M Deragon; Louise R Simard; Damian Labuda
Alumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers.
Genomics 1990;7(3):331-4.
1986: Louise R Simard; W E O'Brien; Roderick R McInnes
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.
American journal of human genetics 1986;39(1):38-51.
1986: M A Lambert; Louise R Simard; Peter N Ray; Roderick R McInnes
Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines.
Molecular and cellular biology 1986;6(5):1722-8.