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1. Genome-wide association interaction analysis for Alzheimer's disease

Author

Gusareva, Elena S., Carrasquillo, Minerva M., Bellenguez, Céline, Cuyvers, Elise, Colon, Samuel, Graff-Radford, Neill R., Petersen, Ronald C., Dickson, Dennis W., Mahachie John, Jestinah M., Bessonov, Kyrylo, Van Broeckhoven, Christine, Harold, Denise, Williams, Julie, Amouyel, Philippe, Sleegers, Kristel, Ertekin-Taner, Nilüfer, Lambert, Jean-Charles, and Van Steen, Kristel

Published
2014
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2. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Author

Cuyvers, Elise, van der Zee, Julie, Bettens, Karolien, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Robberecht, Caroline, Dillen, Lubina, Merlin, Céline, Geerts, Nathalie, Graff, Caroline, Thonberg, Håkan, Chiang, Huei-Hsin, Pastor, Pau, Ortega-Cubero, Sara, Pastor, Maria A., Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Nacmias, Benedetta, Sorbi, Sandro, Sanchez-Valle, Raquel, Lladó, Albert, Gelpi, Ellen, Almeida, Maria Rosário, Santana, Isabel, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Matěj, Radoslav, Rohan, Zdenek, Ruiz, Agustín, Frisoni, Giovanni B., Fabrizi, Gian Maria, Vandenberghe, Rik, De Deyn, Peter P., Van Broeckhoven, Christine, and Sleegers, Kristel

Published
2015
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3. Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

Author

Cuyvers, Elise, Bettens, Karolien, Philtjens, Stéphanie, Van Langenhove, Tim, Gijselinck, Ilse, van der Zee, Julie, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Van Dongen, Jasper, Geerts, Nathalie, Maes, Githa, Mattheijssens, Maria, Peeters, Karin, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter P., Van Broeckhoven, Christine, Cruts, Marc, and Sleegers, Kristel

Published
2014
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6. A 22-single nucleotide polymorphism Alzheimer risk score correlates with family history, onset age, and cerebrospinal fluid <tex>A\beta_{42}$</tex>

Author

Sleegers, Kristel, Bettens, Karolien, De Roeck, Arne, Van Cauwenberghe, Caroline, Cuyvers, Elise, Verheijen, Jan, Struyfs, Hanne, Van Dongen, Jasper, Vermeulen, Steven, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Vandenberghe, Rik, De Deyn, Peter Paul, Van Broeckhoven, Christine, and BELNEU Consortium

Subjects
fungi, Human medicine, Biology
Abstract

Background The ability to identify individuals at increased genetic risk for Alzheimer's disease (AD) may streamline biomarker and drug trials and aid clinical and personal decision making. Methods We evaluated the discriminative ability of a genetic risk score (GRS) covering 22 published genetic risk loci for AD in 1162 Flanders-Belgian AD patients and 1019 controls and assessed correlations with family history, onset age, and cerebrospinal fluid (CSF) biomarkers (Aβ142, T-Tau, P-Tau181P). Results A GRS including all single nucleotide polymorphisms (SNPs) and age-specific APOE ε4 weights reached area under the curve (AUC) 0.70, which increased to AUC 0.78 for patients with familial predisposition. Risk of AD increased with GRS (odds ratio, 2.32 (95% confidence interval 2.082.58 per unit; P < 1.0e−15). Onset age and CSF Aβ142 decreased with increasing GRS (Ponset_age = 9.0e−11; PAβ = 8.9e−7). Conclusions The discriminative ability of this 22-SNP GRS is still limited, but these data illustrate that incorporation of age-specific weights improves discriminative ability. GRS-phenotype correlations highlight the feasibility of identifying individuals at highest susceptibility.

Published
2015

7. A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42

Author

Sleegers, Kristel, Bettens, Karolien, De Roeck, Arne, Van Cauwenberghe, Caroline, Cuyvers, Elise, Verheijen, Jan, Struyfs, Hanne, Van Dongen, Jasper, Vermeulen, Steven, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Vandenberghe, Rik, De Deyn, Peter Paul, Van Broeckhoven, Christine, BELNEU consortium, the, Santens, Patrick, De Bleecker, Jan, Sieben, Anne, Dermaut, Bart, BELNEU consortium, Molecular Neuroscience and Ageing Research (MOLAR), Clinical sciences, Neurology, and Pathologic Biochemistry and Physiology

Subjects
Oncology, Apolipoprotein E, Male, Genotype-phenotype correlation, Epidemiology, CLU, LOCI, Genome-wide association study, CD2AP, Bioinformatics, Alzheimer Disease/cerebrospinal fluid, 0302 clinical medicine, Belgium, Risk Factors, Medicine and Health Sciences, Family history, Age of Onset, Medicine(all), 0303 health sciences, DEMENTIA, Health Policy, Area under the curve, COMMON VARIANTS, Alzheimer's disease, Middle Aged, CSF Aβ1–42, Psychiatry and Mental health, Phenotype, CSFA beta(1-42), Biomarker (medicine), Female, Peptide Fragments/cerebrospinal fluid, EPHA1, APOE, medicine.medical_specialty, Genotype, Clinical Neurology, Single-nucleotide polymorphism, tau Proteins, Genotype-phenotype, Biology, IDENTIFIES VARIANTS, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cellular and Molecular Neuroscience, Apolipoproteins E, Developmental Neuroscience, Alzheimer Disease, Internal medicine, medicine, Dementia, Humans, Biomarkers/cerebrospinal fluid, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, 030304 developmental biology, Aged, Amyloid beta-Peptides, fungi, Biology and Life Sciences, tau Proteins/cerebrospinal fluid, Odds ratio, medicine.disease, Amyloid beta-Peptides/cerebrospinal fluid, Peptide Fragments, Onset age, correlation, Genetic risk profile, Neurology (clinical), CD33, Geriatrics and Gerontology, Apolipoproteins E/genetics, 030217 neurology & neurosurgery, Biomarkers
Abstract

INTRODUCTION: The ability to identify individuals at increased genetic risk for Alzheimer's disease (AD) may streamline biomarker and drug trials and aid clinical and personal decision making. METHODS: We evaluated the discriminative ability of a genetic risk score (GRS) covering 22 published genetic risk loci for AD in 1162 Flanders-Belgian AD patients and 1019 controls and assessed correlations with family history, onset age, and cerebrospinal fluid (CSF) biomarkers (Aβ1-42, T-Tau, P-Tau181P). RESULTS: A GRS including all single nucleotide polymorphisms (SNPs) and age-specific APOE ε4 weights reached area under the curve (AUC) 0.70, which increased to AUC 0.78 for patients with familial predisposition. Risk of AD increased with GRS (odds ratio, 2.32 (95% confidence interval 2.08-2.58 per unit; P < 1.0e(-15)). Onset age and CSF Aβ1-42 decreased with increasing GRS (Ponset_age = 9.0e(-11); PAβ = 8.9e(-7)). DISCUSSION: The discriminative ability of this 22-SNP GRS is still limited, but these data illustrate that incorporation of age-specific weights improves discriminative ability. GRS-phenotype correlations highlight the feasibility of identifying individuals at highest susceptibility. publisher: Elsevier articletitle: A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42 journaltitle: Alzheimer's & Dementia articlelink: http://dx.doi.org/10.1016/j.jalz.2015.02.013 content_type: article copyright: Copyright © 2015 The Authors. Published by Elsevier B.V. ispartof: Alzheimer's & Dementia vol:11 issue:12 pages:1452-1460 ispartof: location:United States status: published

Published
2014

10. Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

Author

Van den Bossche, Tobi, primary, Sleegers, Kristel, additional, Cuyvers, Elise, additional, Engelborghs, Sebastiaan, additional, Sieben, Anne, additional, De Roeck, Arne, additional, Van Cauwenberghe, Caroline, additional, Vermeulen, Steven, additional, Van den Broeck, Marleen, additional, Laureys, Annelies, additional, Peeters, Karin, additional, Mattheijssens, Maria, additional, Vandenbulcke, Mathieu, additional, Vandenberghe, Rik, additional, Martin, Jean-Jacques, additional, De Deyn, Peter P., additional, Cras, Patrick, additional, and Van Broeckhoven, Christine, additional

Published
2016
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12. Corrigendum to “Genome-wide association interaction analysis for Alzheimer's disease.” [Neurobiol. Aging 35 (2014) 2436–2443]

Author

Gusareva, Elena S., primary, Carrasquillo, Minerva M., additional, Bellenguez, Céline, additional, Cuyvers, Elise, additional, Colon, Samuel, additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Dickson, Dennis W., additional, Mahachie John, Jestinah M., additional, Bessonov, Kyrylo, additional, Van Broeckhoven, Christine, additional, Ramirez, Alfredo, additional, Harold, Denise, additional, Williams, Julie, additional, Amouyel, Philippe, additional, Sleegers, Kristel, additional, Ertekin-Taner, Nilüfer, additional, Lambert, Jean-Charles, additional, and Van Steen, Kristel, additional

Published
2016
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13. Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

Author

Cuyvers, Elise, primary, De Roeck, Arne, additional, Van den Bossche, Tobi, additional, Van Cauwenberghe, Caroline, additional, Bettens, Karolien, additional, Vermeulen, Steven, additional, Mattheijssens, Maria, additional, Peeters, Karin, additional, Engelborghs, Sebastiaan, additional, Vandenbulcke, Mathieu, additional, Vandenberghe, Rik, additional, De Deyn, Peter P, additional, Van Broeckhoven, Christine, additional, and Sleegers, Kristel, additional

Published
2015
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14. P4-194: The identification of high-penetrant loss-of-function mutations in abca7 in Alzheimer's disease

Author

Cuyvers, Elise, primary, De Roeck, Arne, additional, Van den Bossche, Tobi, additional, Van Cauwenberghe, Caroline, additional, Bettens, Karolien, additional, Vermeulen, Steven, additional, Mattheijssens, Maria, additional, Peeters, Karin, additional, Engelborghs, Sebastiaan, additional, Vandenbulcke, Mathieu, additional, Vandenberghe, Rik, additional, De Deyn, Peter P., additional, Van Broeckhoven, Christine, additional, and Sleegers, Kristel, additional

Published
2015
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15. TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

Author

Kleinberger, Gernot, primary, Yamanishi, Yoshinori, additional, Suárez-Calvet, Marc, additional, Czirr, Eva, additional, Lohmann, Ebba, additional, Cuyvers, Elise, additional, Struyfs, Hanne, additional, Pettkus, Nadine, additional, Wenninger-Weinzierl, Andrea, additional, Mazaheri, Fargol, additional, Tahirovic, Sabina, additional, Lleó, Alberto, additional, Alcolea, Daniel, additional, Fortea, Juan, additional, Willem, Michael, additional, Lammich, Sven, additional, Molinuevo, José L., additional, Sánchez-Valle, Raquel, additional, Antonell, Anna, additional, Ramirez, Alfredo, additional, Heneka, Michael T., additional, Sleegers, Kristel, additional, van der Zee, Julie, additional, Martin, Jean-Jacques, additional, Engelborghs, Sebastiaan, additional, Demirtas-Tatlidede, Asli, additional, Zetterberg, Henrik, additional, Van Broeckhoven, Christine, additional, Gurvit, Hakan, additional, Wyss-Coray, Tony, additional, Hardy, John, additional, Colonna, Marco, additional, and Haass, Christian, additional

Published
2014
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16. O4-04-03: HIGH SCORES ON A 22-GENE RISK SCORE FOR ALZHEIMER'S DEMENTIA CORRELATE WITH EARLIER ONSET AGE AND REDUCED CSF Aβ

Author

Bettens, Karolien, primary, Van Cauwenberghe, Caroline, additional, Cuyvers, Elise, additional, Verheijen, Jan, additional, De Roeck, Arne, additional, Van Dongen, Jasper, additional, Vermeulen, Steven, additional, Engelborghs, Sebastiaan, additional, Vandenbulcke, Mathieu, additional, Vandenberghe, Rik R., additional, De Deyn, Peter Paul, additional, Van Broeckhoven, Christine, additional, and Sleegers, Kristel, additional

Published
2014
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18. A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42.

Author

Sleegers, Kristel, Bettens, Karolien, De Roeck, Arne, Van Cauwenberghe, Caroline, Cuyvers, Elise, Verheijen, Jan, Struyfs, Hanne, Van Dongen, Jasper, Vermeulen, Steven, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Vandenberghe, Rik, De Deyn, Peter Paul, and Van Broeckhoven, Christine

Abstract

Introduction The ability to identify individuals at increased genetic risk for Alzheimer's disease (AD) may streamline biomarker and drug trials and aid clinical and personal decision making. Methods We evaluated the discriminative ability of a genetic risk score (GRS) covering 22 published genetic risk loci for AD in 1162 Flanders-Belgian AD patients and 1019 controls and assessed correlations with family history, onset age, and cerebrospinal fluid (CSF) biomarkers (Aβ 1–42 , T-Tau, P-Tau 181P ). Results A GRS including all single nucleotide polymorphisms (SNPs) and age-specific APOE ε4 weights reached area under the curve (AUC) 0.70, which increased to AUC 0.78 for patients with familial predisposition. Risk of AD increased with GRS (odds ratio, 2.32 (95% confidence interval 2.08–2.58 per unit; P < 1.0e −15 ). Onset age and CSF Aβ 1–42 decreased with increasing GRS ( P onset_age = 9.0e −11 ; P Aβ = 8.9e −7 ). Discussion The discriminative ability of this 22-SNP GRS is still limited, but these data illustrate that incorporation of age-specific weights improves discriminative ability. GRS-phenotype correlations highlight the feasibility of identifying individuals at highest susceptibility. [ABSTRACT FROM AUTHOR]

Published
2015
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25. A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42.

Author

Sleegers K, Bettens K, De Roeck A, Van Cauwenberghe C, Cuyvers E, Verheijen J, Struyfs H, Van Dongen J, Vermeulen S, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, and Van Broeckhoven C

Subjects
Age of Onset, Aged, Alzheimer Disease cerebrospinal fluid, Amyloid beta-Peptides cerebrospinal fluid, Apolipoproteins E genetics, Belgium, Biomarkers cerebrospinal fluid, Female, Genotype, Humans, Male, Middle Aged, Peptide Fragments cerebrospinal fluid, Peptide Fragments genetics, Phenotype, Risk Factors, tau Proteins cerebrospinal fluid, tau Proteins genetics, Alzheimer Disease genetics, Amyloid beta-Peptides genetics, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
Abstract

Introduction: The ability to identify individuals at increased genetic risk for Alzheimer's disease (AD) may streamline biomarker and drug trials and aid clinical and personal decision making., Methods: We evaluated the discriminative ability of a genetic risk score (GRS) covering 22 published genetic risk loci for AD in 1162 Flanders-Belgian AD patients and 1019 controls and assessed correlations with family history, onset age, and cerebrospinal fluid (CSF) biomarkers (Aβ1-42, T-Tau, P-Tau181P)., Results: A GRS including all single nucleotide polymorphisms (SNPs) and age-specific APOE ε4 weights reached area under the curve (AUC) 0.70, which increased to AUC 0.78 for patients with familial predisposition. Risk of AD increased with GRS (odds ratio, 2.32 (95% confidence interval 2.08-2.58 per unit; P < 1.0e(-15)). Onset age and CSF Aβ1-42 decreased with increasing GRS (Ponset&#95;age = 9.0e(-11); PAβ = 8.9e(-7))., Discussion: The discriminative ability of this 22-SNP GRS is still limited, but these data illustrate that incorporation of age-specific weights improves discriminative ability. GRS-phenotype correlations highlight the feasibility of identifying individuals at highest susceptibility., (Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2015
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