Detalhe da pesquisa
1.
Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index.
Hum Mol Genet
; 32(10): 1741-1752, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715614
2.
Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures.
Mov Disord
; 38(8): 1428-1442, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37278528
3.
Repeat length variations in polyglutamine disease-associated genes affect body mass index.
Int J Obes (Lond)
; 43(3): 440-449, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120431
4.
Body weight is a robust predictor of clinical progression in Huntington disease.
Ann Neurol
; 82(3): 479-483, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28779551
5.
Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.
Brain
; 140(7): e42, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549075
6.
Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias.
Neurotherapeutics
; 16(2): 263-286, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607747
7.
Repeat variations in polyglutamine disease-associated genes and cognitive function in old age.
Neurobiol Aging
; 84: 236.e17-236.e28, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31522753
8.
Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.
JAMA Neurol
; 76(6): 650-656, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933216
9.
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease.
Stem Cell Res
; 39: 101498, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326748
10.
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.
Neurobiol Aging
; 73: 230.e9-230.e17, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30314815
11.
Assessment Scales for Patients with Advanced Huntington's Disease: Comparison of the UHDRS and UHDRS-FAP.
Mov Disord Clin Pract
; 5(5): 527-533, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515443
12.
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset.
Neurol Genet
; 4(5): e275, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30338295
13.
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.
Stem Cell Res
; 29: 125-128, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656178
14.
Maternal Agreeableness Moderates Associations Between Young Children's Emotion Dysregulation and Socioemotional Functioning at School.
J Genet Psychol
; 178(2): 102-107, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28375827
15.
Huntingtin gene repeat size variations affect risk of lifetime depression.
Transl Psychiatry
; 7(12): 1277, 2017 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29225330