Detalhe da pesquisa
1.
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Hum Mol Genet
; 32(24): 3374-3389, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756622
2.
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies.
Lab Invest
; 103(3): 100037, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925196
3.
Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model.
Cell Mol Life Sci
; 79(8): 441, 2022 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864358
4.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
5.
Synthesis and Exon-Skipping Properties of a 3'-Ursodeoxycholic Acid-Conjugated Oligonucleotide Targeting DMD Pre-mRNA: Pre-Synthetic versus Post-Synthetic Approach.
Molecules
; 26(24)2021 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946743
6.
Exons 45-55 Skipping Using Mutation-Tailored Cocktails of Antisense Morpholinos in the DMD Gene.
Mol Ther
; 27(11): 2005-2017, 2019 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31416775
7.
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Int J Mol Sci
; 22(1)2020 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33396724
8.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Am J Hum Genet
; 98(1): 90-101, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686765
9.
Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model.
Mol Ther
; 25(10): 2345-2359, 2017 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28750736
10.
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy.
Mol Ther
; 25(11): 2561-2572, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28865998
11.
Membrane repair of human skeletal muscle cells requires Annexin-A5.
Biochim Biophys Acta
; 1863(9): 2267-79, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27286750
12.
ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy.
Nucleic Acids Res
; 43(17): 8227-42, 2015 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26184877
13.
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
14.
Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody.
BMC Cell Biol
; 17(1): 26, 2016 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27350129
15.
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
Hum Mol Genet
; 23(14): 3746-58, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24565866
16.
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
J Cell Sci
; 127(Pt 13): 2873-84, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24806962
17.
Synthetically modified mRNA for efficient and fast human iPS cell generation and direct transdifferentiation to myoblasts.
Biochem Biophys Res Commun
; 473(3): 743-51, 2016 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26449459
18.
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study.
Mol Ther
; 22(1): 219-25, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23831596
19.
Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches.
Nucleic Acids Res
; 41(17): 8391-402, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23861443
20.
Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells.
J Neurosci
; 33(10): 4280-94, 2013 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23467345