Detalhe da pesquisa
1.
Splice modulating therapies for human disease.
Cell
; 148(6): 1085-8, 2012 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22424220
2.
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations.
RNA
; 29(4): 446-454, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669889
3.
Correction: Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.
PLoS Genet
; 17(1): e1009345, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33507897
4.
Whole-genome sequencing holds the key to the success of gene-targeted therapies.
Am J Med Genet C Semin Med Genet
; 193(1): 19-29, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453229
5.
Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy.
Genet Med
; 25(12): 100981, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712502
6.
Orthogonal proteomics methods warrant the development of Duchenne muscular dystrophy biomarkers.
Clin Proteomics
; 20(1): 23, 2023 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308827
7.
DMD antisense oligonucleotide mediated exon skipping efficiency correlates with flanking intron retention time and target position within the exon.
RNA Biol
; 20(1): 693-702, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667454
8.
7',5'-alpha-bicyclo-DNA: new chemistry for oligonucleotide exon splicing modulation therapy.
Nucleic Acids Res
; 49(21): 12089-12105, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850138
9.
Premature termination codons in the DMD gene cause reduced local mRNA synthesis.
Proc Natl Acad Sci U S A
; 117(28): 16456-16464, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616572
10.
Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models.
Hum Mol Genet
; 29(5): 745-755, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32025735
11.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Hum Mol Genet
; 29(11): 1853-1863, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960911
12.
Opportunities and challenges for antisense oligonucleotide therapies.
J Inherit Metab Dis
; 44(1): 72-87, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391605
13.
Implications of increased S100ß and Tau5 proteins in dystrophic nerves of two mdx mouse models for Duchenne muscular dystrophy.
Mol Cell Neurosci
; 105: 103484, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32240725
14.
Natural disease history of the D2-mdx mouse model for Duchenne muscular dystrophy.
FASEB J
; 33(7): 8110-8124, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933664
15.
Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples.
Hum Mutat
; 40(10): 1630-1633, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31356707
16.
Association Study of Exon Variants in the NF-κB and TGFß Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Am J Hum Genet
; 99(5): 1163-1171, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745838
17.
Cyclic Peptides to Improve Delivery and Exon Skipping of Antisense Oligonucleotides in a Mouse Model for Duchenne Muscular Dystrophy.
Mol Ther
; 26(1): 132-147, 2018 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29103911
18.
Voluntary exercise improves muscle function and does not exacerbate muscle and heart pathology in aged Duchenne muscular dystrophy mice.
J Mol Cell Cardiol
; 125: 29-38, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30336143
19.
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.
J Cell Mol Med
; 22(4): 2442-2448, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29441734
20.
Letter by Duan et al Regarding Article, "Therapeutic Exon Skipping Through a CRISPR-Guided Cytidine Deaminase Rescues Dystrophic Cardiomyopathy In Vivo".
Circulation
; 145(18): e872-e873, 2022 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35500049