Veronique Bolduc, Ph.D. - Publications

Affiliations: 
2011 Université de Montréal, Montréal, Canada 
Area:
Neurogenetics, neurodegenerative disorders, neuromuscular disorders, hereditary ataxias

10 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
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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.ajhg.2009.12.013  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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