Detalhe da pesquisa
1.
Novel MECP2 gene therapy is effective in a multicenter study using two mouse models of Rett syndrome and is safe in non-human primates.
Mol Ther
; 31(9): 2767-2782, 2023 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481701
2.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
3.
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
Ann Neurol
; 77(4): 668-74, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612243
4.
The ZZ domain of dystrophin in DMD: making sense of missense mutations.
Hum Mutat
; 35(2): 257-64, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302611
5.
Neuron-Schwann cell interactions in peripheral nervous system homeostasis, disease, and preclinical treatment.
Front Cell Neurosci
; 17: 1248922, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37900588
6.
Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model.
Mol Ther Methods Clin Dev
; 31: 101144, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38027058
7.
Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines.
Front Cell Dev Biol
; 11: 1181040, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37397246
8.
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
Hum Mutat
; 33(3): E2317-31, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213072
9.
Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.
J Pers Med
; 12(12)2022 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36556200
10.
Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse.
Mol Ther Methods Clin Dev
; 26: 279-293, 2022 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35949298
11.
Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy.
Mol Ther Nucleic Acids
; 30: 479-492, 2022 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36420217
12.
Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.
Cell Rep
; 41(10): 111751, 2022 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476864
13.
Translational research and therapeutic perspectives in dysferlinopathies.
Mol Med
; 17(9-10): 875-82, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556485
14.
U7 snRNA, a Small RNA with a Big Impact in Gene Therapy.
Hum Gene Ther
; 32(21-22): 1317-1329, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34139889
15.
Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes.
Mol Ther Nucleic Acids
; 23: 476-486, 2021 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33510937
16.
Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping.
Mol Ther Methods Clin Dev
; 21: 325-340, 2021 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33898631
17.
Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications.
Hum Gene Ther
; 32(21-22): 1346-1359, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060935
18.
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders.
J Vis Exp
; (170)2021 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33871464
19.
Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping.
Hum Gene Ther
; 32(17-18): 882-894, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33406986
20.
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.
Hum Mutat
; 31(2): 136-42, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19953532