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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673.
medRxiv. 2024.
PMID: 38585825
Free PMC article.
Preprint.
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Aguti S, Gallus GN, Bianchi S, Salvatore S, Rubegni A, Berti G, Formichi P, De Stefano N, Malandrini A, Lopergolo D.
Aguti S, et al.
Cells. 2024 Feb 10;13(4):329. doi: 10.3390/cells13040329.
Cells. 2024.
PMID: 38391941
Free PMC article.
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Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.
Aguti S, Guirguis F, Bönnemann C, Muntoni F, Bolduc V, Zhou H.
Aguti S, et al.
Methods Mol Biol. 2023;2587:387-407. doi: 10.1007/978-1-0716-2772-3_20.
Methods Mol Biol. 2023.
PMID: 36401040
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Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy.
Aguti S, Marrosu E, Muntoni F, Zhou H.
Aguti S, et al.
Methods Mol Biol. 2020;2176:221-230. doi: 10.1007/978-1-0716-0771-8_16.
Methods Mol Biol. 2020.
PMID: 32865794
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Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.
Aguti S, Bolduc V, Ala P, Turmaine M, Bönnemann CG, Muntoni F, Zhou H.
Aguti S, et al.
Mol Ther Nucleic Acids. 2020 Sep 4;21:205-216. doi: 10.1016/j.omtn.2020.05.029. Epub 2020 Jun 1.
Mol Ther Nucleic Acids. 2020.
PMID: 32585628
Free PMC article.
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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.
Bolduc V, et al. Among authors: aguti s.
JCI Insight. 2019 Mar 21;4(6):e124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21.
JCI Insight. 2019.
PMID: 30895940
Free PMC article.
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The progress of AAV-mediated gene therapy in neuromuscular disorders.
Aguti S, Malerba A, Zhou H.
Aguti S, et al.
Expert Opin Biol Ther. 2018 Jun;18(6):681-693. doi: 10.1080/14712598.2018.1479739. Epub 2018 Jun 4.
Expert Opin Biol Ther. 2018.
PMID: 29781327
Review.
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