Detalhe da pesquisa
1.
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene.
Nature
; 572(7767): 125-130, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341277
2.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827497
3.
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
4.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(5): 1007, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051109
5.
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome.
Dis Model Mech
; 17(6)2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38463005
6.
Cell-type specific regulation of myostatin signaling.
FASEB J
; 26(4): 1462-72, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22202673
7.
CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy.
bioRxiv
; 2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945402
8.
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome.
bioRxiv
; 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711956
9.
BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model.
Neurobiol Dis
; 41(2): 353-60, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20940052
10.
Development of therapeutic genome engineering in laminin-α2-deficient congenital muscular dystrophy.
Emerg Top Life Sci
; 3(1): 11-18, 2019 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33523194
11.
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism.
Nat Med
; 23(8): 984-989, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714989
12.
Exon Snipping in Duchenne Muscular Dystrophy.
Trends Mol Med
; 22(3): 187-189, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26856237
13.
Targeting TGF-ß Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-ß Type I Receptor.
Mol Ther Nucleic Acids
; 3: e156, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24691207
14.
Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFß Type 1 Receptor Modulation by Antisense Oligonucleotides.
Mol Ther Nucleic Acids
; 3: e142, 2014 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24448195
15.
Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva.
PLoS One
; 8(7): e69096, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23861958
16.
Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy.
BMC Med Genomics
; 4: 36, 2011 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21507246