Detalhe da pesquisa
1.
Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1.
Gene Ther
; 29(12): 698-709, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35075265
2.
Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.
Int J Mol Sci
; 23(21)2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362145
3.
Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy.
Neurobiol Dis
; 160: 105532, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655747
4.
Differentiation of lymphoblastoid-derived iPSCs into functional cardiomyocytes, neurons and myoblasts.
Biochem Biophys Res Commun
; 516(1): 222-228, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31208718
5.
Correction of GSK3ß at young age prevents muscle pathology in mice with myotonic dystrophy type 1.
FASEB J
; 32(4): 2073-2085, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203592
6.
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
7.
Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.
Am J Med Genet A
; 167A(4): 708-14, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712547
8.
Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.
PLoS Genet
; 8(11): e1003043, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23209425
9.
Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy.
Stem Cell Res
; 77: 103430, 2024 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38704930
10.
Generation of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research.
Stem Cell Res
; 76: 103375, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38490135
11.
Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines.
Stem Cell Res
; 67: 103037, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739767
12.
Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A).
Stem Cell Res
; 71: 103148, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352653
13.
Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A)
Stem Cell Res
; 72: 103234, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37871474
14.
Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels.
Front Physiol
; 14: 1258318, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37791351
15.
Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1.
Front Physiol
; 14: 1257682, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37811496
16.
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
J Physiol
; 590(11): 2629-44, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22250216
17.
Abnormal prostaglandin E2 production blocks myogenic differentiation in myotonic dystrophy.
Neurobiol Dis
; 45(1): 122-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21742035
18.
Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI.
J Magn Reson Imaging
; 35(3): 678-85, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22069222
19.
Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1.
Hum Gene Ther
; 33(15-16): 810-820, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35794764
20.
Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants with myotonic dystrophy type 1.
J Neurol
; 269(7): 3579-3587, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35103843