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Items: 25

1.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG.

JCI Insight. 2019 Mar 21;4(6). pii: 124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21.

2.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL.

Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9.

3.

The IL-1β Antibody Gevokizumab Limits Cardiac Remodeling and Coronary Dysfunction in Rats With Heart Failure.

Harouki N, Nicol L, Remy-Jouet I, Henry JP, Dumesnil A, Lejeune A, Renet S, Golding F, Djerada Z, Wecker D, Bolduc V, Bouly M, Roussel J, Richard V, Mulder P.

JACC Basic Transl Sci. 2017 Aug 28;2(4):418-430. doi: 10.1016/j.jacbts.2017.06.005. eCollection 2017 Aug.

4.

Circulating acylcarnitine profile in human heart failure: a surrogate of fatty acid metabolic dysregulation in mitochondria and beyond.

Ruiz M, Labarthe F, Fortier A, Bouchard B, Thompson Legault J, Bolduc V, Rigal O, Chen J, Ducharme A, Crawford PA, Tardif JC, Des Rosiers C.

Am J Physiol Heart Circ Physiol. 2017 Oct 1;313(4):H768-H781. doi: 10.1152/ajpheart.00820.2016. Epub 2017 Jul 14.

5.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

6.

Ivabradine and metoprolol differentially affect cardiac glucose metabolism despite similar heart rate reduction in a mouse model of dyslipidemia.

Vaillant F, Lauzier B, Ruiz M, Shi Y, Lachance D, Rivard ME, Bolduc V, Thorin E, Tardif JC, Des Rosiers C.

Am J Physiol Heart Circ Physiol. 2016 Oct 1;311(4):H991-H1003. doi: 10.1152/ajpheart.00789.2015. Epub 2016 Aug 5.

7.

Pulse pressure-dependent cerebrovascular eNOS regulation in mice.

Raignault A, Bolduc V, Lesage F, Thorin E.

J Cereb Blood Flow Metab. 2017 Feb;37(2):413-424. doi: 10.1177/0271678X16629155. Epub 2016 Jul 21.

8.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG.

Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13.

9.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.

10.

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI; FORGE Canada Consortium, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B.

Muscle Nerve. 2014 Nov;50(5):775-9. doi: 10.1002/mus.24224. Epub 2014 Sep 16.

PMID:
24616084
11.

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.

Bolduc V, Zou Y, Ko D, Bönnemann CG.

Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74.

12.

Endothelium-dependent control of cerebrovascular functions through age: exercise for healthy cerebrovascular aging.

Bolduc V, Thorin-Trescases N, Thorin E.

Am J Physiol Heart Circ Physiol. 2013 Sep 1;305(5):H620-33. doi: 10.1152/ajpheart.00624.2012. Epub 2013 Jun 21. Review.

13.

Postnatal exposure to voluntary exercise but not the antioxidant catechin protects the vasculature after a switch to an atherogenic environment in middle-age mice.

Leblond F, Nguyen A, Bolduc V, Lambert J, Yu C, Duquette N, Thorin E.

Pflugers Arch. 2013 Feb;465(2):197-208. doi: 10.1007/s00424-012-1206-8. Epub 2013 Jan 6.

14.

Catechin prevents severe dyslipidemia-associated changes in wall biomechanics of cerebral arteries in LDLr-/-:hApoB+/+ mice and improves cerebral blood flow.

Bolduc V, Baraghis E, Duquette N, Thorin-Trescases N, Lambert J, Lesage F, Thorin E.

Am J Physiol Heart Circ Physiol. 2012 Mar 15;302(6):H1330-9. doi: 10.1152/ajpheart.01044.2011. Epub 2012 Jan 20.

15.

Measurement of cerebral microvascular compliance in a model of atherosclerosis with optical coherence tomography.

Baraghis E, Bolduc V, Lefebvre J, Srinivasan VJ, Boudoux C, Thorin E, Lesage F.

Biomed Opt Express. 2011 Nov 1;2(11):3079-93. doi: 10.1364/BOE.2.003079. Epub 2011 Oct 13.

16.

Heart rate-associated mechanical stress impairs carotid but not cerebral artery compliance in dyslipidemic atherosclerotic mice.

Bolduc V, Drouin A, Gillis MA, Duquette N, Thorin-Trescases N, Frayne-Robillard I, Des Rosiers C, Tardif JC, Thorin E.

Am J Physiol Heart Circ Physiol. 2011 Nov;301(5):H2081-92. doi: 10.1152/ajpheart.00706.2011. Epub 2011 Sep 16.

17.

Up-regulation of thromboxane A₂ impairs cerebrovascular eNOS function in aging atherosclerotic mice.

Drouin A, Farhat N, Bolduc V, Thorin-Trescases N, Gillis MA, Villeneuve L, Nguyen A, Thorin E.

Pflugers Arch. 2011 Sep;462(3):371-83. doi: 10.1007/s00424-011-0973-y. Epub 2011 May 27.

18.

Catechin treatment improves cerebrovascular flow-mediated dilation and learning abilities in atherosclerotic mice.

Drouin A, Bolduc V, Thorin-Trescases N, Bélanger É, Fernandes P, Baraghis E, Lesage F, Gillis MA, Villeneuve L, Hamel E, Ferland G, Thorin E.

Am J Physiol Heart Circ Physiol. 2011 Mar;300(3):H1032-43. doi: 10.1152/ajpheart.00410.2010. Epub 2010 Dec 24.

19.

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B.

Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17.

PMID:
20610155
20.

Late chronic catechin antioxidant treatment is deleterious to the endothelial function in aging mice with established atherosclerosis.

Gendron ME, Théorêt JF, Mamarbachi AM, Drouin A, Nguyen A, Bolduc V, Thorin-Trescases N, Merhi Y, Thorin E.

Am J Physiol Heart Circ Physiol. 2010 Jun;298(6):H2062-70. doi: 10.1152/ajpheart.00532.2009. Epub 2010 Apr 9.

21.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B.

Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi: 10.1016/j.ajhg.2009.12.013. Epub 2010 Jan 21.

22.

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.

Bolduc V, Chagnon P, Provost S, Dubé MP, Belisle C, Gingras M, Mollica L, Busque L.

J Clin Invest. 2008 Jan;118(1):333-41.

23.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B.

Brain. 2007 Feb;130(Pt 2):368-80. Epub 2006 Sep 28.

PMID:
17008331
24.

Identification and characterization of an Xp22.33;Yp11.2 translocation causing a triplication of several genes of the pseudoautosomal region 1 in an XX male patient with severe systemic lupus erythematosus.

Chagnon P, Schneider R, Hébert J, Fortin PR, Provost S, Belisle C, Gingras M, Bolduc V, Perreault C, Silverman E, Busque L.

Arthritis Rheum. 2006 Apr;54(4):1270-8.

25.

Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach.

Chagnon P, Provost S, Belisle C, Bolduc V, Gingras M, Busque L.

Exp Hematol. 2005 Oct;33(10):1209-14.

PMID:
16219543

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