Detalhe da pesquisa
1.
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.
Cell Mol Life Sci
; 81(1): 150, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38512499
2.
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain
; 145(11): 3770-3775, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883251
3.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
4.
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
Int J Mol Sci
; 21(20)2020 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33096920
5.
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
6.
Becker muscular dystrophy severity is linked to the structure of dystrophin.
Hum Mol Genet
; 24(5): 1267-79, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348330
7.
Normal and altered pre-mRNA processing in the DMD gene.
Hum Genet
; 136(9): 1155-1172, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28597072
8.
FUBP1: a new protagonist in splicing regulation of the DMD gene.
Nucleic Acids Res
; 43(4): 2378-89, 2015 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25662218
9.
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Genet Med
; 17(10): 796-806, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569440
10.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
J Neurol Neurosurg Psychiatry
; 86(10): 1060-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25476005
11.
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
Am J Nephrol
; 42(1): 78-84, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340091
12.
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
J Pediatr
; 204: 305-313.e14, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579468
13.
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
Hum Mutat
; 34(5): 774-84, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23381846
14.
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.
Hum Mutat
; 34(8): 1080-4, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649991
15.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913485
16.
Non-USH2A mutations in USH2 patients.
Hum Mutat
; 33(3): 504-10, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22147658
17.
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
Hum Mutat
; 32(4): 467-75, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21305657
18.
The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
Hum Mutat
; 31(3): 366-7, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052753
19.
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
Hum Mutat
; 31(3): 347-55, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052763
20.
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study.
Mov Disord
; 25(3): 289-99, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20063427