Detalhe da pesquisa
1.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Hum Mutat
; 41(2): 420-431, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608518
2.
CRISPR/Cas9-Induced (CTGâ CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.
Mol Ther
; 25(1): 24-43, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129118
3.
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Eur J Hum Genet
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433266
4.
Longitudinal changes in white matter as measured with diffusion tensor imaging in adult-onset myotonic dystrophy type 1.
Neuromuscul Disord
; 33(8): 660-669, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419717
5.
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.
Neuromuscul Disord
; 32(5): 377-389, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361525
6.
Characterization of a heat resistant beta-glucosidase as a new reporter in cells and mice.
BMC Biol
; 8: 89, 2010 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20569471
7.
A DM1 patient with CCG variant repeats: Reaching the diagnosis.
Neuromuscul Disord
; 31(3): 232-238, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33546847
8.
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1.
Neurol Genet
; 7(2): e577, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33912661
9.
Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1.
Front Neurol
; 12: 700796, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276551
10.
Blood-Based Markers of Neuronal Injury in Adult-Onset Myotonic Dystrophy Type 1.
Front Neurol
; 12: 791065, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35126292
11.
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1.
Neurol Genet
; 7(2): e572, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884298
12.
White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden.
Sci Rep
; 11(1): 4886, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33649422
13.
Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.
J Huntingtons Dis
; 10(1): 53-74, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579864
14.
On-chip immunoprecipitation for protein purification.
Lab Chip
; 10(20): 2805-13, 2010 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20714512
15.
A simple, sensitive and selective quantum-dot-based western blot method for the simultaneous detection of multiple targets from cell lysates.
Anal Bioanal Chem
; 398(1): 547-54, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20582696
16.
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.
PLoS One
; 15(4): e0231000, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32287265
17.
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.
Neurol Genet
; 6(5): e504, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851192
18.
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Genes (Basel)
; 11(11)2020 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33171734
19.
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Genes (Basel)
; 11(7)2020 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645888
20.
Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI.
Neurology
; 92(24): e2803-e2814, 2019 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31118244