Detalhe da pesquisa
1.
Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy.
Nucleic Acids Res
; 49(4): 2240-2254, 2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33503262
2.
Remote assessment of myotonic dystrophy type 1: A feasibility study.
Muscle Nerve
; 66(3): 336-339, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426155
3.
Milestones of progression in myotonic dystrophy type 1 and type 2.
Muscle Nerve
; 66(4): 508-512, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35778789
4.
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Muscle Nerve
; 65(5): 560-567, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179228
5.
Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease.
Mol Cell
; 56(2): 311-322, 2014 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25263597
6.
Intron retention induced by microsatellite expansions as a disease biomarker.
Proc Natl Acad Sci U S A
; 115(16): 4234-4239, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610297
7.
Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase.
Nucleic Acids Res
; 46(1): e1, 2018 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036654
8.
Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy.
PLoS Genet
; 12(9): e1006316, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681373
9.
Design of Bivalent Nucleic Acid Ligands for Recognition of RNA-Repeated Expansion Associated with Huntington's Disease.
Biochemistry
; 57(14): 2094-2108, 2018 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29562132
10.
Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.
Hum Mol Genet
; 25(19): 4328-4338, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27522499
11.
Targeting nuclear RNA for in vivo correction of myotonic dystrophy.
Nature
; 488(7409): 111-5, 2012 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22859208
12.
TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy.
Hum Mol Genet
; 24(7): 2035-48, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504044
13.
Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy.
Nucleic Acids Res
; 43(6): 3318-31, 2015 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25753670
14.
Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects.
Nucleic Acids Res
; 42(10): 6591-602, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24799433
15.
Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.
PLoS Genet
; 9(12): e1003866, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367268
16.
Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1.
J Pharmacol Exp Ther
; 355(2): 329-40, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26330536
17.
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.
Hum Mol Genet
; 21(6): 1312-24, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140091
18.
Splicing biomarkers of disease severity in myotonic dystrophy.
Ann Neurol
; 74(6): 862-72, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929620
19.
RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy.
Mol Ther
; 21(2): 380-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23183533
20.
From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy.
Nucleic Acids Res
; 40(13): 6380-90, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22492623