Detalhe da pesquisa
1.
Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.
Hum Reprod
; 34(8): 1608-1619, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348829
2.
Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.
Trends Genet
; 31(3): 140-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703649
3.
Alpha-synuclein repeat variants and survival in Parkinson's disease.
Mov Disord
; 29(8): 1053-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578302
4.
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
Hum Mutat
; 34(2): 363-73, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23111906
5.
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
Mov Disord
; 28(12): 1740-4, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913756
6.
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
J Med Genet
; 49(11): 721-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125461
7.
Locus-specific mutation databases for neurodegenerative brain diseases.
Hum Mutat
; 33(9): 1340-4, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581678
8.
Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
Mov Disord
; 27(11): 1451-6, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22976901
9.
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Hum Mutat
; 31(7): 763-80, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20506312
10.
APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.
Hum Mutat
; 30(8): 1207-13, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19462468
11.
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
Hum Mutat
; 30(7): 1054-61, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19405094
12.
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease.
Hum Mutat
; 29(6): 832-40, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18401856
13.
Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients.
Eur J Hum Genet
; 16(4): 471-9, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18197194
14.
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.
Trends Genet
; 21(12): 664-72, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16221505
15.
A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.
Brain
; 130(Pt 9): 2277-91, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17681982
16.
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.
Hum Mutat
; 28(8): 830, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17623484
17.
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
Arch Neurol
; 64(10): 1436-46, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17923627
18.
Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease.
Brain
; 129(Pt 11): 2984-91, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16931535
19.
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy.
Brain
; 129(Pt 11): 2977-83, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16921174
20.
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.
Hum Mutat
; 27(7): 686-95, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16752394