Publications de nos chercheurs

Nouveautés
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Diabète de grossesse
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2019

Maternal lipid profile differs by gestational diabetes physiologic subtype.
Layton J, Powe C, Allard C, Battista MC, Doyon M, Bouchard L, Perron P, Wessel J, Hivert MF.
Metabolism. 2019 Feb;91:39-42.
Résumé

2018

Effect of gestational diabetes and insulin resistance on offspring’s myocardial relaxation kinetics at three years of age.
Blais S, Patenaude J, Doyon M, Bouchard L, Perron P, Hivert MF, Dallaire F. PLoS One. 2018 Nov 21;13(11):e0207632. eCollection 2018.
Résumé     Article en libre accès

2017

Placental lipoprotein lipase DNA methylation alterations are associated with gestational diabetes and body composition at 5 years of age.
Gagné-Ouellet V, Houde AA, Guay SP, Perron P, Gaudet D, Guérin R, Jean-Patrice B, Hivert MF, Brisson D, Bouchard L. Epigenetics. 2017 Aug;12(8):616-625.
Résumé
Article en libre accès

Genetic determinants of adiponectin regulation revealed by pregnancy.
Hivert MF, Scholtens DM, Allard C, Nodzenski M, Bouchard L, Brisson D, Lowe LP, McDowell I, Reddy T, Dastani Z, Richards JB, Hayes MG, Lowe WL Jr. Obesity (Silver Spring). 2017 May;25(5):935-944.
Résumé          Article en libre accès

Déficience intellectuelle et trouble du spectre de l’autisme
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2018

Les effets d’un programme de formation parentale francophone sur les comportements-défis d’enfants autistes.
Rousseau M, McKinnon S, Ilg J, Bourassa J, Paquet A, Lagard V, Clément C. Revue québécoise de psychologie. 2018;39(2):5-21.
Résumé

Traduction et adaptation du TEI-SF afin de documenter l’acceptabilité sociale de l’intervention comportementale intensive.
Paquet A, McKinnon S, Clément C, Rousseau M. Pratiques psychologiques. 2018:24(1):99-113.
Résumé     Article en libre accès

Génétique et épigénétique
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2019

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
Overend G, Légaré C, Mathieu J, Bouchard L, Gagnon C, Monckton DG. Hum Mol Genet. 2019 Jul 1;28(13):2245-2254.
Résumé     Article en libre accès

Human high-density lipoprotein microtranscriptome is unique and suggests an extended role in lipid metabolism.
Desgagné V, Guérin R, Guay SP, Boyer M, Hutchins E, Picard S, Maréchal A, Corbin F, Keuren-Jensen KV, Arsenault BJ, Bouchard L. Epigenomics. 2019 Jun;11(8):917-934.
Résumé

Pharmacogenetic testing in primary care practice: opinions of physicians, pharmacists and patients.
Frigon MP, Blackburn MÈ, Dubois-Bouchard C, Gagnon AL, Tardif S, Tremblay K. Pharmacogenomics. 2019 Jun;20(8):589-598.
Résumé     Article en libre accès

DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1.
Légaré C, Overend G, Guay SP, Monckton DG, Mathieu J, Gagnon C, Bouchard L. Neurol Genet 2019;5(3):e338.
Résumé     Article en libre accès

Locus-specific DNA methylation prediction in cord blood and placenta.
Ma B, Allard C, Bouchard L, Perron P, Mittleman MA, Hivert MF, Liang L. Epigenetics. 2019 Apr;14(4):405-420.
Résumé

Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight.
Küpers LK, Monnereau C, Sharp GC, Yousefi P, … Bouchard L, … Felix JF. Nat Commun. 2019 Apr 23;10(1):1893.
Résumé     Article en libre accès

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
Warrington NM, Beaumont RN, Horikoshi M, … Bouchard L, … EGG Consortium, … Freathy RM. Nat Genet. 2019 May;51(5):804-814.
Résumé

2018

Genetic Determinants of Glycemic Traits and the Risk of Gestational Diabetes Mellitus.
Powe CE, Nodzenski M, Talbot O, Allard C, Briggs C, Leya MV, Perron P, Bouchard L, Florez JC, Scholtens DM, Lowe WL Jr, Hivert MF. Diabetes. 2018 Dec;67(12):2703-2709.
Résumé

DNA methylation of a PLPP3 MIR transposon-based enhancer promotes an osteogenic programme in calcific aortic valve disease.
Mkannez G, Gagné-Ouellet V, Jalloul Nsaibia M, Boulanger MC, Rosa M, Argaud D, Hadji F, Gaudreault N, Rhéaume G, Bouchard L, Bossé Y, Mathieu P. Cardiovasc Res. 2018 Sep 1;114(11):1525-1535.
Résumé

Placental DNA Methylation Adaptation to Maternal Glycemic Response in Pregnancy.
Cardenas A, Gagné-Ouellet V, Allard C, Brisson D, Perron P, Bouchard L, Hivert MF. Diabetes. 2018 Aug;67(8):1673-1683.
Résumé

An analytic approach for interpretable predictive models in high-dimensional data in the presence of interactions with exposures.
Bhatnagar SR, Yang Y, Khundrakpam B, Evans AC, Blanchette M, Bouchard L, Greenwood CMT. Genet Epidemiol. 2018 Apr;42(3):233-249.
Résumé     Texte en libre accès

Maternal and fetal genetic contribution to gestational weight gain.
Warrington NM, Richmond R, Fenstra B, … Bouchard L, et al. Int J Obes (Lond). 2018 Apr;42(4):775-784.
Résumé     Article en libre accès

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.
Beaumont RN, Warrington NM, … Bouchard L, Das S; Early Growth Genetics (EGG) Consortium. Hum Mol Genet. 2018 Feb 15;27(4):742-756.
Résumé     Article en libre accès

Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium.
Felix JF, Joubert BR, Baccarelli AA, … Bouchard L, et al. Int J Epidemiol. 2018 Feb 1;47(1):22-23u. No abstract available.
Notice        Article en libre accès

Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.

Tardif J, Pratte A, Laberge AM. Prenat Diagn. 2018 Jan;38(1):67-74.

Résumé     Article en libre accès
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2017

PACE4 Undergoes an Oncogenic Alternative Splicing Switch in Cancer.
Couture F, Sabbagh R, Kwiatkowska A, Desjardins R, Guay SP, Bouchard L, Day R. Cancer Res. 2017 Dec 15;77(24):6863-6879.
Résumé     Article en libre accès

Novel founder mutation in French-Canadian families with Naxos disease.
Marino TC, Maranda B, Leblanc J, Pratte A, Barabas M, Dupéré A, Lévesque S. Clin Genet. 2017 Oct;92(4):451-453. Letter to the editor. No abstract available.
Notice

Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium.
Sharp GC, Salas LA, Monnereau C, … Bouchard L, et al. Hum Mol Genet. 2017 Oct 15;26(20):4067-4085.
Résumé     Article en libre accès

MicroRNAs in Pregnancy and Gestational Diabetes Mellitus: Emerging Role in Maternal Metabolic Regulation.
Poirier C, Desgagné V, Guérin R, Bouchard L. Curr Diab Rep. 2017 May;17(5):35. Review.
Résumé

Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
Xin B, Cruz Marino T, Szekely J, Leblanc J, Cechner K, Sency V, Wensel C, Barabas M, Therriault V, Wang H. Clin Genet. 2017 Apr;91(4):623-628.
Résumé

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. Am J Hum Genet. 2017 Mar 2;100(3):488-505.
Résumé          Article en libre accès

Maladies chroniques et soins de première ligne
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2019

Health literacy among older adults living at home and suffering from chronic diseases: Relationships with their usage of health care services.
Dufour I, Lacasse A, Chouinard MC, Chui Y, Lafontaine S. Clin Nurs Stu. 2019. 7(2):79-86.
Résumé     Article en libre accès

Statistical tools used for analyses of frequent users of emergency department: a scoping review.
Chiu Y, Racine-Hemmings F, Dufour I, Vanasse A, Chouinard MC, Bisson M, Hudon C. BMJ Open. 2019 May 24;9(5):e027750.
Résumé     Article en libre accès

Characteristics of self-management among patients with complex health needs: a thematic analysis review.
Gobeil-Lavoie AP, Chouinard MC, Danish A, Hudon C. BMJ Open. 2019 May 24;9(5):e028344.
Résumé     Article en libre accès

GPs’ management of polypharmacy and therapeutic dilemma in patients with multimorbidity: a cross-sectional survey of GPs in France.
Carrier H, Zaytseva A, Bocquier A, Villani P, Verdoux H, Fortin M, Verger P. Br J Gen Pract. 2019 Apr;69(681):e270-e278.
Résumé

Social Vulnerability in Patients with Multimorbidity: A Cross-Sectional Analysis.
Nguyen TN, Ngangue P, Bouhali T, Ryan BL, Stewart M, Fortin M. Int J Environ Res Public Health. 2019 Apr 8;16(7). pii: E1244.
Résumé     Article en libre accès

Integration of chronic disease prevention and management services into primary care (PR1MaC): findings from an embedded qualitative study.
Fortin M, Chouinard MC, Diallo BB, Bouhali T. BMC Fam Pract. 2019 Jan 9;20(1):7.
Résumé     Article en libre accès

Promoting cross-jurisdictional primary health care research: developing a set of common indicators across 12 community-based primary health care teams in Canada.
Wong ST, Langton JM, Katz A, Fortin M, Godwin M, Green M, Grunfeld E, Hassani K, Kendall C, Liddy C, Ploeg J, Wodchis WP, Haggerty JL. Prim Health Care Res Dev. 2019 Jan;20:e7.
Résumé     Article en libre accès

2018

Case management in primary care for frequent users of healthcare services with chronic diseases and complex care needs: an implementation and realist evaluation protocol.
Hudon C, Chouinard MC, … Poitras MÈ, et al. BMJ Open. 2018 Nov 25;8(11):e026433.
Résumé     Article en libre accès

The Patient Experience of Integrated Care Scale: A Validation Study among Patients with Chronic Conditions Seen in Primary Care.
Joober H, Chouinard MC, King J, Lambert M, Hudon É, Hudon C. Int J Integr Care. 2018 Oct 12;18(4):1.
Résumé     Article en libre accès

“It-that-must-not-be-named”: Addressing patient discomfort with the term multimorbidity.
Fortin M. Can Fam Physician 2018; 64:881-88.
Résumé     Article en libre accès

« Ce mot à ne pas prononcer » : Réagir au malaise des patients face au mot multimorbidité
Fortin M. Can Fam Physician 2018; 64:e512-e513.
Résumé     Article en libre accès

Drug samples in family medicine teaching units: a cross-sectional descriptive study: Part 1: drug sample management policies and the relationship between the pharmaceutical industry and residents in Quebec.
Rhéaume C, Labrecque M, Moisan N, Rioux J, Tardieux É, Diallo FB, Lussier MT, Lessard A, Grad R, Pluye P. Can Fam Physician 2018; 64:e531-e539.
Résumé     Article en libre accès

Drug samples in family medicine teaching units: a cross-sectional descriptive study: Part 2: portrait of drug sample management in Quebec
Lessard A, Lussier MT, Diallo FB, Labrecque M, Rhéaume C, Pluye P, Grad R. Can Fam Physician 2018; 64:e540-e545.
Résumé     Article en libre accès

Drug samples in family medicine teaching units: a cross-sectional descriptive study: Part 3: availability and use of drug samples in Quebec
Lussier MT, Diallo FB, Pluye P, Grad R, Lessard A, Rhéaume C, Labrecque M. Can Fam Physician 2018; 64:e546-e552.
Résumé     Article en libre accès

Beyond the grey tsunami: a cross-sectional population-based study of multimorbidity in Ontario.
Ryan BL, Bray Jenkyn K, Shariff SZ, Allen B, Glazier RH, Zwarenstein M, Fortin M, Stewart M.
Can J Public Health. 2018 Dec;109(5-6):845-854.
Résumé

Assessment of scalability of evidence-based innovations in community-based primary health care: a cross-sectional study.
Ben Charif A, Hassani K, Wong ST, Zomahoun HTV, Fortin M, Freitas A, Katz A, Kendall CE, Liddy C, Nicholson K, Petrovic B, Ploeg J, Légaré F. CMAJ Open. 2018 Nov 2;6(4):E520-E527.
Résumé     Article en libre accès

Snapshot of the primary care waiting room: Informing practice redesign to align with the Patient’s Medical Home model.
Haggerty J, Fortin M, Breton M. Can Fam Physician. 2018 Sep;64(9):e407-e413.
Résumé     Article en libre accès

Association study between a polymorphic poly-T repeat sequence in the promoter of the somatostatin gene and metabolic syndrome.
Tremblay M, Brisson D, Gaudet D. BMC Med Genet. 2018 Jul 27;19(1):130.
Résumé     Article en libre accès

Nursing activities for patients with chronic disease in family medicine groups: A multiple-case study.
Poitras ME, Chouinard MC, Fortin M, Girard A, Crossman S, Gallagher F. Nurs Inq. 2018 Oct;25(4):e12250.
Résumé

Addressing the Evidence Gap in Stroke Rehabilitation for Complex Patients: A Preliminary Research Agenda.

Nelson ML, McKellar KA, Munce S, Kelloway L, Hans PK, Fortin M, Lyons R, Bayley M. Arch Phys Med Rehabil. 2018 Jun;99(6):1232-1241.
Résumé

Health literacy – engaging the community in the co-creation of meaningful health navigation services: a study protocol.
Loignon C, Dupéré S, Fortin M, Ramsden VR, Truchon K. BMC Health Serv Res. 2018 Jun 28;18(1):505.
Résumé     Article en libre accès

What are the effective elements in patient-centered and multimorbidity care? A scoping review.
Poitras ME, Maltais ME, Bestard-Denommé L, Stewart M, Fortin M. BMC Health Serv Res. 2018 Jun 14;18(1):446.
Résumé     Article en libre accès

Case Management in Primary Care for Frequent Users of Health Care Services: A Mixed Methods Study.
Hudon C, Chouinard MC, Dubois MF, Roberge P, Loignon C, Tchouaket É, Lambert M, Hudon É, Diadiou F, Bouliane D. Ann Fam Med. 2018 May;16(3):232-239.
Résumé     Article en libre accès

The relationship between health literacy and patient activation among frequent users of healthcare services: a cross-sectional study.
Couture ÉM, Chouinard MC, Fortin M, Hudon C. BMC Fam Pract. 2018 Mar 9;19(1):38.
Résumé     Article en libre accès

A Core Outcome Set for Multimorbidity Research (COSmm).
Smith SM, Wallace E, Salisbury C, Sasseville M, Bayliss E, Fortin M. Ann Fam Med. 2018 Mar;16(2):132-138.
Résumé     Article en libre accès

Nursing Activities for Patients With Chronic Disease in Primary Care Settings: A Practice Analysis.
Poitras ME, Chouinard MC, Gallagher F, Fortin M. Nurs Res. 2018 Jan/Feb;67(1):35-42.
Résumé     Article en libre accès

Patient-reported outcomes in multimorbidity intervention research: A scoping review.
Sasseville M, Chouinard MC, Fortin M. Int J Nurs Stud. 2018 Jan;29;77:145-153. Review.
Résumé

Towards better health, social and community-based services integration for patients with chronic conditions and complex care needs: challenges and next steps for primary care research.
Hudon C, Chouinard MC, Bayliss E, Nothelle S, Senn N, Shadmi E. Ann Fam Med. 2018 16(1):85-86. No abstract available.
Article en libre accès

2017

The Multimorbidity Cluster Analysis Tool: Identifying Combinations and Permutations of Multiple Chronic Diseases Using a Record-Level Computational Analysis.
Nicholson K, Bauer M, Terry A, Fortin M, Williamson T, Thind A. J Innov Health Inform. 2017 Dec 13;24(4):962.
Résumé     Article en libre accès

Decisional needs assessment of patients with complex care needs in primary care: a participatory systematic mixed studies review protocol.
Bujold M, Pluye P, Légaré F, Haggerty J, Gore GC, Sherif RE, Poitras ME, et al.; Participatory Review Team. BMJ Open. 2017 Nov 12;7(11):e016400. Review.
Résumé     Article en libre accès

Development of a research tool to document self-reported chronic conditions in primary care.
Fortin M, Almirall J, Nicholson K. J Comorb. 2017 Nov 9;7(1):117-123.
Résumé     Article en libre accès

Self-reported versus health administrative data: implications for assessing chronic illness burden in populations. A cross-sectional study.
Fortin M, Haggerty J, Sanche S, Almirall J. CMAJ Open. 2017 Sep 25;5(3):E729-E733.
Résumé     Article en libre accès

Case management in primary care among frequent users of healthcare services with chronic conditions: protocol of a realist synthesis.
Hudon C, Chouinard MC, Aubrey-Bassler K, Muhajarine N, Burge F, Pluye P, Bush PL, Ramsden VR, Legare F, Guenette L, Morin P, Lambert M, Groulx A, Couture M, Campbell C, Baker M, Edwards L, Sabourin V, Spence C, Gauthier G, Warren M, Godbout J, Davis B, Rabbitskin N. BMJ Open. 2017 Sep 3;7(9):e017701.
Résumé     Article en libre accès

Multimorbidity, dementia and health care in older people: a population-based cohort study.
Tonelli M, Wiebe N, Straus S, Fortin M, Guthrie B, James MT, Klarenbach SW, Tam-Tham H, Lewanczuk R, Manns BJ, Quan H, Ronksley PE, Sargious P, Hemmelgarn B; Alberta Kidney Disease Network. CMAJ Open. 2017 Aug 14;5(3):E623-E631.
Résumé     Article en libre accès

The relationship between health literacy and quality of life among frequent users of health care services: a cross-sectional study.
Couture ÉM, Chouinard MC, Fortin M, Hudon C. Health Qual Life Outcomes. 2017 Jul 6;15(1):137.
Résumé     Article en libre accès

Relevant Outcomes For Patient-Centered Interventions For Persons With Multimorbidity: Experts’ Discussion.
Sasseville M, Stewart M, Bouhali T, Fortin M. Ann Fam Med. 2017 Jul;15(4):388-389. No abstract available.
Article en libre accès

Maladies lipidiques ou cardiovasculaires
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2019

Visceral fat-related systemic inflammation and the adolescent brain: a mediating role of circulating glycerophosphocholines.
Syme C, Pelletier S, Shin J, Abrahamowicz M, Leonard G, Perron M, Richer L, Veillette S, Gaudet D, Pike B, Strug LJ, Wang Y, Xu H, Taylor G, Bennett S, Paus T, Pausova Z. Int J Obes (Lond). 2019 Jun;43(6):1223-1230.
Résumé

 

2018

Familial hypercholesterolemia in Canada: Initial results from the FH Canada national registry.
Brunham LR, Ruel I, Khoury E, Hegele RA, Couture P, Bergeron J, Baass A, Dufour R, Francis GA, Cermakova L, Mancini GBJ, Brophy JM, Brisson D, Gaudet D, Genest J. Atherosclerosis. 2018 Oct;277:419-424.
Résumé

Efficacy, safety, and tolerability of evolocumab in pediatric patients with heterozygous familial hypercholesterolemia: Rationale and design of the HAUSER-RCT study.
Gaudet D, Langslet G, Gidding SS, Luirink IK, Ruzza A, Kurtz C, Lu C, Somaratne R, Raal FJ, Wiegman A. J Clin Lipidol. 2018 Sep – Oct;12(5):1199-1207.
Résumé     Article en libre accès

Simplified Canadian Definition for Familial Hypercholesterolemia.
Ruel I, Brisson D, Aljenedil S, Awan Z, Baass A, Bélanger A, Bergeron J, Bewick D, Brophy JM, Brunham LR, Couture P, Dufour R, Francis GA, Frohlich J, Gagné C, Gaudet D, Grégoire JC, Gupta M, Hegele RA, Mancini GBJ, McCrindle BW, Pang J, Raggi P, Tu JV, Watts GF, Genest J. Can J Cardiol. 2018 Sep;34(9):1210-1214.
Résumé     Article en libre accès

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.
Dron JS, Wang J, Berberich AJ, Iacocca MA, Cao H, Yang P, Knoll J, Tremblay K, Brisson D, Netzer C, Gouni-Berthold I, Gaudet D, Hegele RA. J Lipid Res. 2018 Aug;59(8):1529-1535.
Résumé     Article en libre accès

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.
Hegele RA, Berberich AJ, Ban MR, Wang J, Digenio A, Alexander VJ, D’Erasmo L, Arca M, Jones A, Bruckert E, Stroes ES, Bergeron J, Civeira F, Witztum JL, Gaudet D. J Clin Lipidol. 2018 Jul – Aug;12(4):920-927.e4.
Résumé     Article en libre accès

Roundtable discussion: Familial chylomicronemia syndrome: Diagnosis and management.
Brown WV, Goldberg I, Duell B, Gaudet D. J Clin Lipidol. 2018 Mar – Apr;12(2):254-263. Review.
Résumé

Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe.
Ruel I, Aljenedil S, Sadri I, de Varennes É, Hegele RA, Couture P, Bergeron J, Wanneh E, Baass A, Dufour R, Gaudet D, Brisson D, Brunham LR, Francis GA, Cermakova L, Brophy JM, Ryomoto A, Mancini GBJ, Genest J. Clin Chem. 2018 Feb;64(2):355-362.
Résumé     Article en libre accès

Roundtable on etiology of familial chylomicronemia syndrome.
Brown WV, Gaudet D, Goldberg I, Hegele R. J Clin Lipidol. 2018 Jan – Feb;12(1):5-11. Review. No abstract available.
Notice

HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology.
Rosenson RS, Brewer HB Jr, Barter PJ, Björkegren JLM, Chapman MJ, Gaudet D, Kim DS, Niesor E, Rye KA, Sacks FM, Tardif JC, Hegele RA. Nat Rev Cardiol. 2018 Jan;15(1):9-19. Review.
Résumé

2017

Rivaroxaban with or without Aspirin in Stable Cardiovascular Disease.
Eikelboom JW, Connolly SJ, Bosch J, Dagenais GR, Hart RG, et al.; COMPASS Investigators. N Engl J Med. 2017 Oct 5;377(14):1319-1330.
Résumé     Article en libre accès

Cardiovascular disease in familial hypercholesterolemia: Validation and refinement of the Montreal-FH-SCORE.
Paquette M, Brisson D, Dufour R, Khoury É, Gaudet D, Baass A. J Clin Lipidol. 2017 Sep – Oct;11(5):1161-1167.e3.
Résumé

Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations.
Stein EA, Dann EJ, Wiegman A, Skovby F, Gaudet D, Sokal E, Charng MJ, Mohamed M, Luirink I, Raichlen JS, Sundén M, Carlsson SC, Raal FJ, Kastelein JJP. J Am Coll Cardiol. 2017 Aug 29;70(9):1162-1170.
Résumé     Article en libre accès

Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label).
Braamskamp MJAM, Langslet G, McCrindle BW, Cassiman D, Francis GA, Gagne C, Gaudet D, Morrison KM, Wiegman A, Turner T, Miller E, Kusters DM, Raichlen JS, Martin PD, Stein EA, Kastelein JJP, Hutten BA. Circulation. 2017 Jul 25;136(4):359-366.
Résumé     Article en libre accès

ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia.
Gaudet D, Gipe DA, Pordy R, Ahmad Z, Cuchel M, Shah PK, Chyu KY, Sasiela WJ, Chan KC, Brisson D, Khoury E, Banerjee P, Gusarova V, Gromada J, Stahl N, Yancopoulos GD, Hovingh GK. N Engl J Med. 2017 Jul 20;377(3):296-297.
No abstract available.
Notice

Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia.
Blom DJ, Averna MR, Meagher EA, du Toit Theron H, Sirtori CR, Hegele RA, Shah PK, Gaudet D, Stefanutti C, Vigna GB, Larrey D, Bloedon LT, Foulds P, Rader DJ, Cuchel M. Circulation. 2017 Jul 18;136(3):332-335. No abstract available.
Article en libre accès

Lipid Metabolism and Emerging Targets for Lipid-Lowering Therapy.
Gaudet D, Drouin-Chartier JP, Couture P. Can J Cardiol. 2017 Jul;33(7):872-882. Review.
Résumé

Cohort Profile: The Saguenay Youth Study (SYS).
Pausova Z, Paus T, Abrahamowicz M, Bernard M, Gaudet D, Leonard G, Peron M, Pike GB, Richer L, Séguin JR, Veillette S. Int J Epidemiol. 2017 Apr 1;46(2):e19.
Résumé     Article en libre accès

Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia.
Besseling J, Reitsma JB, Gaudet D, Brisson D, Kastelein JJ, Hovingh GK, Hutten BA. Eur Heart J. 2017 Feb 21;38(8):565-573.
Résumé     Article en libre accès

Open-label therapy with alirocumab in patients with heterozygous familial hypercholesterolemia: Results from three years of treatment.
Dufour R, Bergeron J, Gaudet D, Weiss R, Hovingh GK, Qing Z, Yang F, Andisik M, Torri A, Pordy R, Gipe DA. Int J Cardiol. 2017 Feb 1;228:754-760.
Résumé     Article en libre accès

Deficient Cholesterol Esterification in Plasma of apoc2 Knockout Zebrafish and Familial Chylomicronemia Patients.
Liu C, Gaudet D, Miller YI. PLoS One. 2017 Jan 20;12(1):e0169939.
Résumé     Article en libre accès

Effect of Alirocumab on Lipoprotein(a) Over ≥1.5 Years (from the Phase 3 ODYSSEY Program).
Gaudet D, Watts GF, Robinson JG, Minini P, Sasiela WJ, Edelberg J, Louie MJ, Raal FJ. Am J Cardiol. 2017 Jan 1;119(1):40-46.
Résumé          Article en libre accès

Maladies neuromusculaires
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2019

ARTICLES

Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders.
Elfassy C, Darsaklis VB, Snider L, Gagnon C, Hamdy R, Dahan-Oliel N. Disabil Rehabil 2019:1-7. [Epub ahead of print]
Résumé

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S; Filnemus Myotonic Dystrophy Study Group, Hamroun D, Bassez G. Orphanet J Rare Dis. 2019 Jun 3;14(1):122.
Résumé    Article en libre accès

Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1.
Roussel MP, Hébert LJ, Duchesne E. J Neuromuscul Dis. 2019;6(2):233-240.
Résumé

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Briand MM, Rodrigue X, Lessard I, Mathieu J, Brais B, Côté I, Gagnon C. J Neurol Sci. 2019 May 15;400:39-41.
Résumé

The requirement for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy.
Côté C, Gagnon C, Youssof S, sKurtz N, Brais B. Muscle Nerve. 2019;59(4):445-450.
Résumé.

 

The need for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy.
Côté C, Gagnon C, Youssof S, Kurtz N, Brais B. Muscle Nerve. 2019 Apr;59(4):445-450.
Résumé.

 

Progressive decline in daily and social activities: A 9-year longitudinal study of participation in myotonic dystrophy type 1.
Raymond K, Levasseur M, Mathieu J, Gagnon C. Arch Phys Med Rehabil. 2019 Mar 1. pii: S0003-9993(19)30148-0.
Résumé

What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review.
Marie-Pier Roussel, Marika Morin, Cynthia Gagnon, Elise Duchesne. BMC Musculoskeletal Disorders, 2019;20:101.
Résumé     Article en libre accès

GUIDES DE PRATIQUE

Guide de pratique en ergothérapie – Favoriser la sexualité et la vie amoureuse des adultes présentant une maladie neuromusculaire.
Muslemani S, Berniquez É, Cloutier J, Lamoureux G, Lefebvre L, Mailhot Tanguay C, Gagnon-Roy M, Plourde A, Gagnon C. 2019. Université de Sherbrooke / Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Saguenay. 51 pages.
Guide en libre accès

 

2018

Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Ashizawa T, Gagnon C, Groh WJ, … Gallais B, et al. Neurol Clin Pract Dec 2018 Dec;8(6):507-520.
Résumé     Article en libre accès

Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015.
Gagnon C, Heatwole C, Hébert LJ, Hogrel JY, Laberge L, Leone M, Meola G, Richer L, Sansone V, Kierkegaard M. J Neuromuscul Dis. 2018 Oct;5(4):523-537. No abstract available.
Notice        Article en libre accès

An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.
Gagnon C, Lessard I, Lavoie C, Côté I, St-Gelais R, Mathieu J, Brais B. Neurology. 2018 Oct 2;91(14):e1307-e1311.
Résumé

Applicability of Neuropsychological and Psychometric Tests in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Brassard K, Bouchard J, Forgues G, Boivin-Mercier A, Gagnon C. Neuropsychologie clinique et appliquée. Automne 2018;2:53-67.
Article en libre accès

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Orphanet J Rare Dis. 2018 Sep 19;13(1):165.
Résumé     Article en libre accès

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Vogel AP, Rommel N, Oettinger A, Stoll LH, Kraus EM, Gagnon C, Horger M, Krumm P, Timmann D, Storey E, Schöls L, Synofzik M. J Neurol. 2018 Sep;265(9):2060-2070.
Résumé

 

Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Gagnon C, Lessard I, Brais B, Côté I, Lavoie C, Synofzik M, Mathieu J. Arch Phys Med Rehabil. 2018 Sep;99(9):1747-1754.
Résumé

Myotonic dystrophy type 1: reasons to be OPTIMISTIC.
Gagnon C, Gallais B, Laberge L. Lancet Neurol. Aug 2018:17(8):652-653. No abstract available.
Notice        Article en libre accès (commentaire)

A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1.
Gagnon C, Petitclerc É, Kierkegaard M, Mathieu J, Duchesne É, Hébert LJ. J Neurol. 2018 Jul;265(7):1698-1705.
Résumé

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.
Lessard I, Brais B, Côté I, Lavoie C, Synofzik M, Mathieu J, Gagnon C. J Neurol Sci. 2018 Jul 15:390:4-9.
Résumé

Relationships between Lower Limb Muscle Strength Impairments and Physical Limitations in DM1.
Petitclerc É, Hébert LJ, Mathieu J, Desrosiers J, Gagnon C. J Neuromuscul Dis. 2018;5(2):215-224.
Résumé

French translation and cross-cultural adaptation of the Myotonic Dystrophy Health Index (MDHI).
Gagnon C, Tremblay M, Côté I, Heatwole C. Muscle Nerve. 2018 Apr;57(4):686-689.
Résumé

Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1.
Kierkegaard M, Petitclerc É, Hébert LJ, Mathieu J, Gagnon C. J Rehabil Med. 2018 Feb 28;50(3):269-277.
Résumé     Article en libre accès

Reliability of the Apathy Evaluation Scale in Myotonic Dystrophy Type 1.
Gallais B, Gagnon C, Côté I, Forgues G, Laberge L. J Neuromuscul Dis. 2018;5(1):39-46.
Résumé

2017

Traduction française de l’échelle Charcot-Marie-Tooth Disease Pediatric Scale.
Gagnon C, Massie R, Tremblay M, Darcy S, Martel M, Burns J. Can J Neurol Sci. 2017 Nov;44(6):740-743.
Résumé     Article en libre accès

Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study.
Bui HT, Audet O, Mathieu J, Gagnon C, Leone M. J Neurol Sci. 2017 Sept 15;380:68-73.
Résumé

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA.
Hoffman EP; Workshop Participants; TREAT-NMD Alliance. Neuromuscul Disord. 2017 Jul;27(7):693-701. No abstract available.
Notice        Article en libre accès

Lower Limb Muscle Strength Impairment in Late-onset and Adult DM1 Phenotypes.
Petitclerc É, Hébert LJ, Mathieu J, Desrosiers J, Gagnon C. Muscle Nerve. 2017 Jul;56(1):57-63.
Résumé

A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender.
Raymond K, Levasseur M, Mathieu J, Desrosiers J, Gagnon C. Neuromuscul Disord. 2017 Jul;27(7):673-682.
Résumé

Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination.
Lessard I, Lavoie C, Côté I, Mathieu J, Brais B, Gagnon C. J Neurol Sci. 2017 Jun 15;377:193-196.
Résumé

Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients.
Bui HT, Gagnon C, Audet O, Mathieu J, Leone M. J Neurol Sc. 2017 Apr 15;375:181-185.
Résumé

Further evidence for the reliability and validity of the Fatigue and Daytime Sleepiness Scale.
Gallais B, Gagnon C, Forgues G, Côté I, Laberge L. J Neurol Sci. 2017; Apr 15;375:23-26.
Résumé

Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review.
Gagnon C, Kierkegaard M, Blackburn C, Chrestian N, Lavoie M, Bouchard MF, Mathieu J. Dev Med Child Neurol. 2017 Mar;59(3):291-296.
Résumé     Article en libre accès

Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1.
Kierkegaard M, Petitclerc E, Hébert LJ, Gagnon C.
Neuromuscul Disord. 2017 Feb;27(2):153-158.
Résumé

Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop.
Hesterlee S, Amur S, Bain LJ, Carulli J, Clarke S, Day JW, Gagnon C, Hagerman K, Heatwole C, Johnson NE, Moxley R 3rd, Patel N, Thornton C, Kessel W, White M. Ther Innov Regul Sci. 2017 Jul;51(4):516-522.
Résumé

Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study.
Gallais B, Gagnon C, Mathieu J, Richer L. Neuromuscul Disord. 2017 Jan;27(1):61-72.
Résumé

Nutrition – Dysphagie
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2019

The requirement for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy.
Côté C, Gagnon C, Youssof S, Kurtz N, Brais B. Muscle Nerve. 2019 Apr;59(4):445-450.
Résumé

Comparison of two methods to categorize thickened liquids for dysphagia management in a clinical care setting context: The Bostwick consistometer and the IDDSI Flow Test. Are we talking about the same concept?
Côté C, Germain I, Dufresne T, Gagnon C. J Texture Stud. 2019 Apr;50(2):95-103.
Résumé

2018

Adaptation transculturelle en français du Edinburgh Feeding Evaluation in Dementia (EdFED) Scale : un questionnaire pour évaluer les difficultés à s’alimenter de personnes âgées présentant des troubles cognitifs en centre d’hébergement.
Côté C, Gagnon C, Payette H. Can J Aging. 2018 Dec;37(4):474-481.
Résumé

2017

Prévenir la dénutrition des personnes âgées dysphagiques institutionnalisées avec une alimentation à textures adaptées : essai clinique randomisé.
Côté C, Payette H, Gagnon C. Can J Diet Pract Res. 2017 Mar;78(1):45-49.
Résumé