Detalhe da pesquisa
1.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Proc Natl Acad Sci U S A;
121(16): e2322924121, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38607933
2.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Am J Hum Genet;
109(5): 885-899, 2022 05 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35325614
3.
Modification of Huntington's disease by short tandem repeats.
Brain Commun;
6(2): fcae016, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38449714
4.
Mutant huntingtin confers cell-autonomous phenotypes on Huntington's disease iPSC-derived microglia.
Sci Rep;
13(1): 20477, 2023 11 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37993517
5.
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
NPJ Genom Med;
7(1): 53, 2022 Sep 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36064847
6.
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
NAR Genom Bioinform;
4(4): lqac089, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36478959
7.
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
Nat Neurosci;
25(4): 446-457, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35379994
8.
Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.
Neurology;
96(19): e2395-e2406, 2021 05 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33766994
9.
Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.
J Huntingtons Dis;
10(3): 367-375, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34180418
10.
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
Biol Psychiatry;
87(9): 857-865, 2020 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32087949
11.
Methods for Assessing DNA Repair and Repeat Expansion in Huntington's Disease.
Methods Mol Biol;
1780: 483-495, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29856032
12.
Author Response: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.
Neurology;
98(12): 515, 2022 03 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35314516