Detalhe da pesquisa
1.
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Cells
; 13(4)2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38391941
2.
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.
Methods Mol Biol
; 2587: 387-407, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401040
3.
Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy.
Methods Mol Biol
; 2176: 221-230, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865794
4.
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.
Mol Ther Nucleic Acids
; 21: 205-216, 2020 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32585628
5.
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight
; 4(6)2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895940
6.
The progress of AAV-mediated gene therapy in neuromuscular disorders.
Expert Opin Biol Ther
; 18(6): 681-693, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29781327