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.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Neurogenetics
; 14(3-4): 173-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644918
17.
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Hum Genet
; 131(12): 1833-40, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22825315
18.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Biochem Biophys Res Commun
; 424(3): 404-8, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22771793
19.
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
Amyotroph Lateral Scler
; 13(3): 265-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22409360
20.
Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.
Hum Mol Genet
; 18(16): 3039-47, 2009 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19465745