| 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 |
|
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