Veronique Bolduc, Ph.D.
Affiliations: | 2011 | Université de Montréal, Montréal, Canada |
Area:
Neurogenetics, neurodegenerative disorders, neuromuscular disorders, hereditary ataxiasGoogle:
"Veronique Bolduc"Mean distance: 20.63 (cluster 28)
Parents
Sign in to add mentor| Bernard Brais | grad student | 2011 | Université de Montréal | |
| (Identification du gene Anoctamine 5 responsable d'une nouvelle forme recessive de dystrophie musculaire des ceintures.) | ||||
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Publications
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| Foley AR, Bolduc V, Guirguis F, et al. (2024) The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. Medrxiv : the Preprint Server For Health Sciences |
| Donkervoort S, van de Locht M, Ronchi D, et al. (2024) Pathogenic variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science Translational Medicine. 16: eadg2841 |
| Lopes Abath Neto O, Medne L, Donkervoort S, et al. (2021) MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase. Brain : a Journal of Neurology |
| Aguti S, Bolduc V, Ala P, et al. (2020) Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Molecular Therapy. Nucleic Acids. 21: 205-216 |
| Mohassel P, Liewluck T, Hu Y, et al. (2019) Dominant collagen XII mutations cause a distal myopathy. Annals of Clinical and Translational Neurology |
| Hu Y, Mohassel P, Donkervoort S, et al. (2019) Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation. Journal of Neuromuscular Diseases |
| Bolduc V, Foley AR, Solomon-Degefa H, et al. (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. Jci Insight. 4 |
| Estañ MC, Fernández-Núñez E, Zaki MS, et al. (2019) Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nature Communications. 10: 797 |
| Cummings BB, Marshall JL, Tukiainen T, et al. (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9 |
| Donkervoort S, Papadaki M, de Winter JM, et al. (2015) TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Annals of Neurology |