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Veronique Bolduc, Ph.D. - Publications

Affiliations: 
2011 Université de Montréal, Montréal, Canada 
Area:
Neurogenetics, neurodegenerative disorders, neuromuscular disorders, hereditary ataxias
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14/30 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, et al. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase. Brain : a Journal of Neurology. PMID 34581780 DOI: 10.1093/brain/awab275  0.31
2020 Aguti S, Bolduc V, Ala P, Turmaine M, Bönnemann CG, Muntoni F, Zhou H. Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Molecular Therapy. Nucleic Acids. 21: 205-216. PMID 32585628 DOI: 10.1016/j.omtn.2020.05.029  0.465
2019 Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, et al. Dominant collagen XII mutations cause a distal myopathy. Annals of Clinical and Translational Neurology. PMID 31509352 DOI: 10.1002/Acn3.50882  0.482
2019 Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Reghan Foley A, Bönnemann CG. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation. Journal of Neuromuscular Diseases. PMID 31498126 DOI: 10.3233/Jnd-190414  0.526
2019 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, et al. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. Jci Insight. 4. PMID 30895940 DOI: 10.1172/Jci.Insight.124403  0.317
2019 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, et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nature Communications. 10: 797. PMID 30770808 DOI: 10.1038/s41467-019-08548-9  0.488
2017 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, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209  0.307
2015 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, et al. TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Annals of Neurology. PMID 26418456 DOI: 10.1002/ana.24535  0.405
2015 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, et al. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Human Mutation. 36: 48-56. PMID 25204870 DOI: 10.1002/Humu.22691  0.466
2014 Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle & Nerve. 50: 775-9. PMID 24616084 DOI: 10.1002/Mus.24224  0.496
2014 Bolduc V, Zou Y, Ko D, Bönnemann CG. siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. Molecular Therapy. Nucleic Acids. 3: e147. PMID 24518369 DOI: 10.1038/mtna.2013.74  0.376
2010 Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscular Disorders : Nmd. 20: 453-7. PMID 20610155 DOI: 10.1016/J.Nmd.2010.05.007  0.575
2010 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, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. American Journal of Human Genetics. 86: 213-21. PMID 20096397 DOI: 10.1016/J.Nmd.2010.07.131  0.552
2007 Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain : a Journal of Neurology. 130: 368-80. PMID 17008331 DOI: 10.1093/Brain/Awl270  0.521
Low-probability matches (unlikely to be authored by this person)
2020 Bolduc V, Minor KM, Hu Y, Kaur R, Friedenberg SG, Van Buren S, Guo LT, Glennon JC, Marioni-Henry K, Mickelson JR, Bönnemann CG, Shelton GD. Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Neuromuscular Disorders : Nmd. PMID 32439203 DOI: 10.1016/J.Nmd.2020.03.005  0.286
2020 Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, et al. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. American Journal of Human Genetics. PMID 33217308 DOI: 10.1016/j.ajhg.2020.11.002  0.256
2021 Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, ... ... Bolduc V, et al. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. Embo Molecular Medicine. e13787. PMID 34779586 DOI: 10.15252/emmm.202013787  0.221
2022 Aguti S, Guirguis F, Bönnemann C, Muntoni F, Bolduc V, Zhou H. Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy. Methods in Molecular Biology (Clifton, N.J.). 2587: 387-407. PMID 36401040 DOI: 10.1007/978-1-0716-2772-3_20  0.208
2006 Chagnon P, Schneider R, Hébert J, Fortin PR, Provost S, Belisle C, Gingras M, Bolduc V, Perreault C, Silverman E, Busque L. 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. Arthritis and Rheumatism. 54: 1270-8. PMID 16575839 DOI: 10.1002/Art.21733  0.179
2005 Chagnon P, Provost S, Belisle C, Bolduc V, Gingras M, Busque L. Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach. Experimental Hematology. 33: 1209-14. PMID 16219543 DOI: 10.1016/J.Exphem.2005.06.023  0.128
2008 Bolduc V, Chagnon P, Provost S, Dubé MP, Belisle C, Gingras M, Mollica L, Busque L. No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. The Journal of Clinical Investigation. 118: 333-41. PMID 18097474 DOI: 10.1172/Jci33166  0.117
2012 Bolduc V, Baraghis E, Duquette N, Thorin-Trescases N, Lambert J, Lesage F, Thorin E. Catechin prevents severe dyslipidemia-associated changes in wall biomechanics of cerebral arteries in LDLr-/-:hApoB+/+ mice and improves cerebral blood flow. American Journal of Physiology. Heart and Circulatory Physiology. 302: H1330-9. PMID 22268108 DOI: 10.1152/Ajpheart.01044.2011  0.099
2011 Baraghis E, Bolduc V, Lefebvre J, Srinivasan VJ, Boudoux C, Thorin E, Lesage F. Measurement of cerebral microvascular compliance in a model of atherosclerosis with optical coherence tomography. Biomedical Optics Express. 2: 3079-93. PMID 22076269 DOI: 10.1364/Boe.2.003079  0.095
2011 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. Catechin treatment improves cerebrovascular flow-mediated dilation and learning abilities in atherosclerotic mice. American Journal of Physiology. Heart and Circulatory Physiology. 300: H1032-43. PMID 21186270 DOI: 10.1152/Ajpheart.00410.2010  0.085
2011 Baraghis E, Bolduc V, Gillis MA, Srinivasan VJ, Thorin E, Boudoux C, Lesage F. Synthetic reconstruction of dynamic blood flow in cortical arteries using optical coherence tomography for the evaluation of vessel compliance Progress in Biomedical Optics and Imaging - Proceedings of Spie. 7883. DOI: 10.1117/12.875659  0.077
2010 Gendron ME, Théorêt JF, Mamarbachi AM, Drouin A, Nguyen A, Bolduc V, Thorin-Trescases N, Merhi Y, Thorin E. Late chronic catechin antioxidant treatment is deleterious to the endothelial function in aging mice with established atherosclerosis. American Journal of Physiology. Heart and Circulatory Physiology. 298: H2062-70. PMID 20382853 DOI: 10.1152/Ajpheart.00532.2009  0.076
2011 Drouin A, Farhat N, Bolduc V, Thorin-Trescases N, Gillis MA, Villeneuve L, Nguyen A, Thorin E. Up-regulation of thromboxane A₂ impairs cerebrovascular eNOS function in aging atherosclerotic mice. PflüGers Archiv : European Journal of Physiology. 462: 371-83. PMID 21617900 DOI: 10.1007/S00424-011-0973-Y  0.07
2013 Leblond F, Nguyen A, Bolduc V, Lambert J, Yu C, Duquette N, Thorin E. Postnatal exposure to voluntary exercise but not the antioxidant catechin protects the vasculature after a switch to an atherogenic environment in middle-age mice. PflüGers Archiv : European Journal of Physiology. 465: 197-208. PMID 23291710 DOI: 10.1007/S00424-012-1206-8  0.036
2011 Bolduc V, Drouin A, Gillis MA, Duquette N, Thorin-Trescases N, Frayne-Robillard I, Des Rosiers C, Tardif JC, Thorin E. Heart rate-associated mechanical stress impairs carotid but not cerebral artery compliance in dyslipidemic atherosclerotic mice. American Journal of Physiology. Heart and Circulatory Physiology. 301: H2081-92. PMID 21926346 DOI: 10.1152/Ajpheart.00706.2011  0.036
2013 Bolduc V, Thorin-Trescases N, Thorin E. Endothelium-dependent control of cerebrovascular functions through age: exercise for healthy cerebrovascular aging. American Journal of Physiology. Heart and Circulatory Physiology. 305: H620-33. PMID 23792680 DOI: 10.1152/Ajpheart.00624.2012  0.026
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