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Items: 1 to 50 of 101

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.

Search for Neutrinoless Quadruple-β Decay of ^{150}Nd with the NEMO-3 Detector.

Arnold R, Augier C, Barabash AS, Basharina-Freshville A, Blondel S, Blot S, Bongrand M, Boursette D, Brudanin V, Busto J, Caffrey AJ, Calvez S, Cascella M, Cerna C, Cesar JP, Chapon A, Chauveau E, Chopra A, Dawson L, Duchesneau D, Durand D, Egorov V, Eurin G, Evans JJ, Fajt L, Filosofov D, Flack R, Garrido X, Gómez H, Guillon B, Guzowski P, Hodák R, Huber A, Hubert P, Hugon C, Jullian S, Klimenko A, Kochetov O, Konovalov SI, Kovalenko V, Lalanne D, Lang K, Lemière Y, Le Noblet T, Liptak Z, Liu XR, Loaiza P, Lutter G, Macko M, Macolino C, Mamedov F, Marquet C, Mauger F, Morgan B, Mott J, Nemchenok I, Nomachi M, Nova F, Nowacki F, Ohsumi H, Patrick C, Pahlka RB, Perrot F, Piquemal F, Povinec P, Přidal P, Ramachers YA, Remoto A, Reyss JL, Riddle CL, Rukhadze E, Saakyan R, Salazar R, Sarazin X, Shitov Y, Simard L, Šimkovic F, Smetana A, Smolek K, Smolnikov A, Söldner-Rembold S, Soulé B, Štefánik D, Štekl I, Suhonen J, Sutton CS, Szklarz G, Thomas J, Timkin V, Torre S, Tretyak VI, Tretyak VI, Umatov VI, Vanushin I, Vilela C, Vorobel V, Waters D, Xie F, Žukauskas A; NEMO-3 Collaboration.

Phys Rev Lett. 2017 Jul 28;119(4):041801. doi: 10.1103/PhysRevLett.119.041801. Epub 2017 Jul 24.

PMID:
29341770
3.

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
4.

Vascular Burden Impact on Echocardiographic Valvular Graft Degeneration Following a Ross Procedure in Young Adults.

Simard L, Perron J, Shen M, Tastet L, Mohammadi S, Clisson M, Poulin A, Clavel MA.

J Am Coll Cardiol. 2017 Aug 22;70(8):1099-1101. doi: 10.1016/j.jacc.2017.06.042. No abstract available.

5.

Impact of Vascular Hemodynamics on Aortic Stenosis Evaluation: New Insights Into the Pathophysiology of Normal Flow-Small Aortic Valve Area-Low Gradient Pattern.

Côté N, Simard L, Zenses AS, Tastet L, Shen M, Clisson M, Clavel MA.

J Am Heart Assoc. 2017 Jul 7;6(7). pii: e006276. doi: 10.1161/JAHA.117.006276.

6.

Severe and Asymptomatic Aortic Stenosis Management Challenge: Knowing That We Do Not Really Know.

Tastet L, Simard L, Clavel MA.

Curr Treat Options Cardiovasc Med. 2017 May;19(5):33. doi: 10.1007/s11936-017-0533-7. Review.

PMID:
28364395
7.

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE.

J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6.

8.

Response by Simard et al to Letter Regarding Article, "Sex-Related Discordance Between Aortic Valve Calcification and Hemodynamic Severity of Aortic Stenosis: Is Valvular Fibrosis the Explanation?"

Simard L, Côté N, Mathieu P, Clavel MA.

Circ Res. 2017 Mar 3;120(5):e26. doi: 10.1161/CIRCRESAHA.117.310532. No abstract available.

PMID:
28254806
9.

The BiPo-3 detector.

Loaiza P, Barabash AS, Basharina-Freshville A, Birdsall E, Blondel S, Blot S, Bongrand M, Boursette D, Brudanin V, Busto J, Caffrey AJ, Calvez S, Cascella M, Cerna C, Chauveau E, Chopra A, Capua S, Duchesneau D, Durand D, Egorov V, Eurin G, Evans JJ, Fajt L, Filosofov D, Flack R, Garrido X, Gómez H, Guillon B, Guzowski P, Holý K, Hodák R, Huber A, Hugon C, Jeremie A, Jullian S, Kauer M, Klimenko A, Kochetov O, Konovalov SI, Kovalenko V, Lang K, Lemière Y, Noblet TL, Liptak Z, Liu XR, Lutter G, Macko M, Mamedov F, Marquet C, Mauger F, Morgan B, Mott J, Nemchenok I, Nomachi M, Nova F, Ohsumi H, Oliviéro G, Pahlka RB, Pater J, Perrot F, Piquemal F, Povinec P, Přidal P, Ramachers YA, Remoto A, Richards B, Riddle CL, Rukhadze E, Saakyan R, Sarazin X, Shitov Y, Simard L, Šimkovic F, Smetana A, Smolek K, Smolnikov A, Söldner-Rembold S, Soulé B, Štekl I, Thomas J, Timkin V, Torre S, Tretyak VI, Tretyak VI, Umatov VI, Vilela C, Vorobel V, Waters D, Žukauskas A.

Appl Radiat Isot. 2017 May;123:54-59. doi: 10.1016/j.apradiso.2017.01.021. Epub 2017 Jan 29.

PMID:
28242294
10.

Sex-Related Discordance Between Aortic Valve Calcification and Hemodynamic Severity of Aortic Stenosis: Is Valvular Fibrosis the Explanation?

Simard L, Côté N, Dagenais F, Mathieu P, Couture C, Trahan S, Bossé Y, Mohammadi S, Pagé S, Joubert P, Clavel MA.

Circ Res. 2017 Feb 17;120(4):681-691. doi: 10.1161/CIRCRESAHA.116.309306. Epub 2016 Nov 22.

PMID:
27879282
11.

Biophysical characterization of the honeybee DSC1 orthologue reveals a novel voltage-dependent Ca2+ channel subfamily: CaV4.

Gosselin-Badaroudine P, Moreau A, Simard L, Cens T, Rousset M, Collet C, Charnet P, Chahine M.

J Gen Physiol. 2016 Aug;148(2):133-45. doi: 10.1085/jgp.201611614. Epub 2016 Jul 18.

12.

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.

13.

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.

14.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J; FORGE Canada Consortium, Rockman-Greenberg C.

BMC Med Genet. 2015 Apr 30;16:28. doi: 10.1186/s12881-015-0175-0. Review.

15.

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
16.

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
17.

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.

18.

Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.

Maranda B, Fan L, Soucy JF, Simard L, Mitchell GA.

Clin Biochem. 2012 Jan;45(1-2):88-91. doi: 10.1016/j.clinbiochem.2011.10.019. Epub 2011 Nov 7.

PMID:
22085534
19.

Measurement of the ββ decay half-life of 130Te with the NEMO-3 detector.

Arnold R, Augier C, Baker J, Barabash AS, Basharina-Freshville A, Blondel S, Bongrand M, Broudin-Bay G, Brudanin V, Caffrey AJ, Chapon A, Chauveau E, Durand D, Egorov V, Flack R, Garrido X, Grozier J, Guillon B, Hubert P, Hugon C, Jackson CM, Jullian S, Kauer M, Klimenko A, Kochetov O, Konovalov SI, Kovalenko V, Lalanne D, Lamhamdi T, Lang K, Liptak Z, Lutter G, Mamedov F, Marquet Ch, Martin-Albo J, Mauger F, Mott J, Nachab A, Nemchenok I, Nguyen CH, Nova F, Novella P, Ohsumi H, Pahlka RB, Perrot F, Piquemal F, Reyss JL, Richards B, Ricol JS, Saakyan R, Sarazin X, Simard L, Simkovic F, Shitov Y, Smolnikov A, Söldner-Rembold S, Stekl I, Suhonen J, Sutton CS, Szklarz G, Thomas J, Timkin V, Torre S, Tretyak VI, Umatov V, Vála L, Vanyushin I, Vasiliev V, Vorobel V, Vylov Ts, Zukauskas A; NEMO-3 Collaboration.

Phys Rev Lett. 2011 Aug 5;107(6):062504. Epub 2011 Aug 4.

PMID:
21902318
20.

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.

21.

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.

22.

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.

23.

Pulmonary recruitment protocol for organ donors: a new strategy to improve the rate of lung utilization.

Noiseux N, Nguyen BK, Marsolais P, Dupont J, Simard L, Houde I, Lallier M, Langevin S, Cantin B, Ferraro P.

Transplant Proc. 2009 Oct;41(8):3284-9. doi: 10.1016/j.transproceed.2009.08.041.

PMID:
19857731
24.

First Report of Longidorus breviannulatus Associated with Damage on Creeping Bentgrass Golf Greens in Québec, Canada.

Simard L, Bélair G, Miller S.

Plant Dis. 2009 Aug;93(8):846. doi: 10.1094/PDIS-93-8-0846C.

PMID:
30764350
25.

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.

26.

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
27.

[Brain storming. Interview by Charles Meunier].

Simard L, Branchaud S.

Perspect Infirm. 2008 May-Jun;5(5):15-6. French. No abstract available.

PMID:
18595597
28.

French version of the strengths and weaknesses of ADHD symptoms and normal behaviors (SWAN-F) questionnaire.

Robaey P, Amre D, Schachar R, Simard L.

J Can Acad Child Adolesc Psychiatry. 2007 May;16(2):80-9.

29.

Association of the dopamine transporter gene and ADHD symptoms in a Canadian population-based sample of same-age twins.

Ouellet-Morin I, Wigg KG, Feng Y, Dionne G, Robaey P, Brendgen M, Vitaro F, Simard L, Schachar R, Tremblay RE, Pérusse D, Boivin M, Barr CL.

Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1442-9. doi: 10.1002/ajmg.b.30677.

PMID:
18165969
30.

[Water quality in hemodialysis].

Arnoux N, Ragon A, Simard L, Chaix E.

Soins. 2007 Oct;(719 Suppl):S18. French. No abstract available.

PMID:
18050872
31.

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
32.
33.

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.

34.

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.

35.

First Report of the Barley Root-Knot Nematode Meloidogyne naasi Infecting Annual Bluegrass on a Golf Course in Quebec, Canada.

Bélair G, Simard L, Eisenback JD.

Plant Dis. 2006 Aug;90(8):1109. doi: 10.1094/PD-90-1109A.

PMID:
30781317
36.

First results of the search for neutrinoless double-beta decay with the NEMO 3 detector.

Arnold R, Augier C, Baker J, Barabash A, Broudin G, Brudanin V, Caffrey AJ, Caurier E, Egorov V, Errahmane K, Etienvre AI, Guyonnet JL, Hubert F, Hubert P, Jollet C, Jullian S, Kochetov O, Kovalenko V, Konovalov S, Lalanne D, Leccia F, Longuemare C, Lutter G, Marquet Ch, Mauger F, Nowacki F, Ohsumi H, Piquemal F, Reyss JL, Saakyan R, Sarazin X, Simard L, Simkovic F, Shitov Y, Smolnikov A, Stekl L, Suhonen J, Sutton CS, Szklarz G, Thomas J, Timkin V, Tretyak V, Umatov V, Vála L, Vanushin I, Vasilyev V, Vorobel V, Vylov Ts.

Phys Rev Lett. 2005 Oct 28;95(18):182302. Epub 2005 Oct 25.

PMID:
16383896
37.

Preclinical and clinical performance of the Efoora test, a rapid test for detection of human immunodeficiency virus-specific antibodies.

Arens MQ, Mundy LM, Amsterdam D, Barrett JT, Bigg D, Bruckner D, Hanna B, Prince H, Purington T, Hanna T, Hewitt R, Kalinka C, Koppes T, Maxwell S, Moe A, Doymaz M, Poulter M, Saber-Tehrani M, Simard L, Wilkins-Carmody D, Vidaver J, Berger C, Davis AH, Alzona MT.

J Clin Microbiol. 2005 May;43(5):2399-406.

38.

Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy.

Anagnostou E, Miller SP, Guiot MC, Karpati G, Simard L, Dilenge ME, Shevell MI.

J Child Neurol. 2005 Feb;20(2):147-50.

PMID:
15794183
39.
40.
41.

Spinal muscular atrophy.

Iannaccone ST, Smith SA, Simard LR.

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

PMID:
14683633
43.

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
44.

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.

DiDonato CJ, Lorson CL, De Repentigny Y, Simard L, Chartrand C, Androphy EJ, Kothary R.

Hum Mol Genet. 2001 Nov 1;10(23):2727-36.

PMID:
11726560
46.
47.

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
48.

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
49.

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
50.

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

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