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Rita Guerreiro
Rita Guerreiro
ยืนยันอีเมลแล้วที่ vai.org - หน้าแรก
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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
50172011
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
34452009
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
33292013
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
26522019
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
23142011
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
19792019
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
15492018
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
10412008
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
10302011
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
10042017
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
8142009
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium
Science (New York, NY) 360 (6395), eaap8757, 2018
7172018
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
6312009
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
5532014
The age factor in Alzheimer’s disease
R Guerreiro, J Bras
Genome medicine 7, 1-3, 2015
5082015
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
4732010
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
4422016
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
4202017
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
4192013
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
3912014
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