Detalhe da pesquisa
1.
Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease.
Cell
; 153(3): 707-20, 2013 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23622250
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.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum Mol Genet
; 30(3-4): 135-148, 2021 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432339
4.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Am J Hum Genet
; 107(1): 96-110, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32589923
5.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Hum Mol Genet
; 29(18): 3044-3053, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32876667
6.
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Hum Mol Genet
; 29(15): 2551-2567, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761094
7.
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.
Am J Hum Genet
; 103(3): 349-357, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122542
8.
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.
Hum Mol Genet
; 26(7): 1258-1267, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28165127
9.
A modifier of Huntington's disease onset at the MLH1 locus.
Hum Mol Genet
; 26(19): 3859-3867, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934397
10.
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
Hum Mol Genet
; 26(5): 913-922, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334820
11.
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.
Am J Hum Genet
; 98(2): 287-98, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849111
12.
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.
Hum Mol Genet
; 25(20): 4566-4576, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28172889
13.
Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
Am J Hum Genet
; 97(3): 435-44, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320893
14.
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
Nature
; 466(7303): 243-7, 2010 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20555325
15.
Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.
PLoS Genet
; 9(10): e1003930, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24204323
16.
Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.
Hum Mol Genet
; 22(16): 3227-38, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595883
17.
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Am J Hum Genet
; 90(3): 434-44, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387017
18.
Chromosome substitution strain assessment of a Huntington's disease modifier locus.
Mamm Genome
; 26(3-4): 119-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645993
19.
Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.
Bipolar Disord
; 17(4): 403-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25726852
20.
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.
Am J Med Genet B Neuropsychiatr Genet
; 168B(2): 135-43, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25656686