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Rita Guerreiro
Rita Guerreiro
在 vai.org 的电子邮件经过验证 - 首页
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
47502011
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
D Harold, R Abraham, P Hollingworth, R Sims, A Gerrish, ML Hamshere, ...
Nature genetics 41 (10), 1088-1093, 2009
33192009
TREM2 variants in Alzheimer's disease
R Guerreiro, A Wojtas, J Bras, M Carrasquillo, E Rogaeva, E Majounie, ...
New England Journal of Medicine 368 (2), 117-127, 2013
31172013
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ...
Nature genetics 51 (3), 414-430, 2019
22582019
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
P Hollingworth, D Harold, R Sims, A Gerrish, JC Lambert, ...
Nature genetics 43 (5), 429-435, 2011
21912011
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
16282019
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13702018
Genotype, haplotype and copy-number variation in worldwide human populations
M Jakobsson, SW Scholz, P Scheet, JR Gibbs, JM VanLiere, HC Fung, ...
Nature 451 (7181), 998-1003, 2008
10212008
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
International Parkinson Disease Genomics Consortium
The Lancet 377 (9766), 641-649, 2011
10082011
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
R Sims, SJ Van Der Lee, AC Naj, C Bellenguez, N Badarinarayan, ...
Nature genetics 49 (9), 1373-1384, 2017
9192017
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
J Neumann, J Bras, E Deas, SS O'Sullivan, L Parkkinen, RH Lachmann, ...
Brain 132 (7), 1783-1794, 2009
7812009
The heritability and genetics of frontotemporal lobar degeneration
JD Rohrer, R Guerreiro, J Vandrovcova, J Uphill, D Reiman, J Beck, ...
Neurology 73 (18), 1451-1456, 2009
5892009
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ...
Nature 505 (7484), 550-554, 2014
5252014
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease
L Jones, PA Holmans, ML Hamshere, D Harold, V Moskvina, D Ivanov, ...
PloS one 5 (11), e13950, 2010
4472010
The age factor in Alzheimer’s disease
R Guerreiro, J Bras
Genome medicine 7, 1-3, 2015
4432015
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy
S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ...
The American Journal of Human Genetics 98 (3), 500-513, 2016
4132016
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia–like syndrome without bone involvement
RJ Guerreiro, E Lohmann, JM Brás, JR Gibbs, JD Rohrer, N Gurunlian, ...
JAMA neurology 70 (1), 78-84, 2013
3992013
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ...
Brain 140 (12), 3191-3203, 2017
3892017
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ...
Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014
3782014
Management of dyslipidaemia in patients with coronary heart disease: results from the ESC-EORP EUROASPIRE V survey in 27 countries
G De Backer, P Jankowski, K Kotseva, E Mirrakhimov, Ž Reiner, L Ryden, ...
Atherosclerosis 285, 135-146, 2019
3232019
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