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1. Amyloid-PET imaging predicts functional decline in clinically normal individuals

Author

Quenon, Lisa, Collij, Lyduine E., Garcia, David Vállez, Lopes Alves, Isadora, Gérard, Thomas, Malotaux, Vincent, Huyghe, Lara, Gispert, Juan Domingo, Jessen, Frank, Visser, Pieter Jelle, den Braber, Anouk, Ritchie, Craig W., Boada, Mercè, Marquié, Marta, Vandenberghe, Rik, Luckett, Emma S., Schöll, Michael, Frisoni, Giovanni B., Buckley, Christopher, Stephens, Andrew, Altomare, Daniele, Ford, Lisa, Birck, Cindy, Mett, Anja, Gismondi, Rossella, Wolz, Robin, Grootoonk, Sylke, Manber, Richard, Shekari, Mahnaz, Lhommel, Renaud, Dricot, Laurence, Ivanoiu, Adrian, Farrar, Gill, Barkhof, Frederik, and Hanseeuw, Bernard J.

Published
2024
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2. Cerebrospinal fluid proteomics in patients with Alzheimer’s disease reveals five molecular subtypes with distinct genetic risk profiles

Author

Tijms, Betty M., Vromen, Ellen M., Mjaavatten, Olav, Holstege, Henne, Reus, Lianne M., van der Lee, Sven, Wesenhagen, Kirsten E. J., Lorenzini, Luigi, Vermunt, Lisa, Venkatraghavan, Vikram, Tesi, Niccoló, Tomassen, Jori, den Braber, Anouk, Goossens, Julie, Vanmechelen, Eugeen, Barkhof, Frederik, Pijnenburg, Yolande A. L., van der Flier, Wiesje M., Teunissen, Charlotte E., Berven, Frode S., and Visser, Pieter Jelle

Published
2024
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3. Subcortical volumes across the lifespan: Data from 18,605 healthy individuals aged 3-90 years.

Author

Dima, Danai, Modabbernia, Amirhossein, Papachristou, Efstathios, Doucet, Gaelle E, Agartz, Ingrid, Aghajani, Moji, Akudjedu, Theophilus N, Albajes-Eizagirre, Anton, Alnaes, Dag, Alpert, Kathryn I, Andersson, Micael, Andreasen, Nancy C, Andreassen, Ole A, Asherson, Philip, Banaschewski, Tobias, Bargallo, Nuria, Baumeister, Sarah, Baur-Streubel, Ramona, Bertolino, Alessandro, Bonvino, Aurora, Boomsma, Dorret I, Borgwardt, Stefan, Bourque, Josiane, Brandeis, Daniel, Breier, Alan, Brodaty, Henry, Brouwer, Rachel M, Buitelaar, Jan K, Busatto, Geraldo F, Buckner, Randy L, Calhoun, Vincent, Canales-Rodríguez, Erick J, Cannon, Dara M, Caseras, Xavier, Castellanos, Francisco X, Cervenka, Simon, Chaim-Avancini, Tiffany M, Ching, Christopher RK, Chubar, Victoria, Clark, Vincent P, Conrod, Patricia, Conzelmann, Annette, Crespo-Facorro, Benedicto, Crivello, Fabrice, Crone, Eveline A, Dannlowski, Udo, Dale, Anders M, Davey, Christopher, de Geus, Eco JC, de Haan, Lieuwe, de Zubicaray, Greig I, den Braber, Anouk, Dickie, Erin W, Di Giorgio, Annabella, Doan, Nhat Trung, Dørum, Erlend S, Ehrlich, Stefan, Erk, Susanne, Espeseth, Thomas, Fatouros-Bergman, Helena, Fisher, Simon E, Fouche, Jean-Paul, Franke, Barbara, Frodl, Thomas, Fuentes-Claramonte, Paola, Glahn, David C, Gotlib, Ian H, Grabe, Hans-Jörgen, Grimm, Oliver, Groenewold, Nynke A, Grotegerd, Dominik, Gruber, Oliver, Gruner, Patricia, Gur, Rachel E, Gur, Ruben C, Hahn, Tim, Harrison, Ben J, Hartman, Catharine A, Hatton, Sean N, Heinz, Andreas, Heslenfeld, Dirk J, Hibar, Derrek P, Hickie, Ian B, Ho, Beng-Choon, Hoekstra, Pieter J, Hohmann, Sarah, Holmes, Avram J, Hoogman, Martine, Hosten, Norbert, Howells, Fleur M, Hulshoff Pol, Hilleke E, Huyser, Chaim, Jahanshad, Neda, James, Anthony, Jernigan, Terry L, Jiang, Jiyang, Jönsson, Erik G, Joska, John A, Kahn, Rene, and Kalnin, Andrew

Subjects
Karolinska Schizophrenia Project, Amygdala, Hippocampus, Thalamus, Corpus Striatum, Humans, Human Development, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Child, Preschool, Female, Male, Young Adult, Neuroimaging, ENIGMA, brain morphometry, longitudinal trajectories, multisite, Neurosciences, Aging, Aetiology, 2.1 Biological and endogenous factors, Mental health, Cognitive Sciences, Experimental Psychology
Abstract

Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to examine age-related trajectories inferred from cross-sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3-90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter-individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age-related morphometric patterns.

Published
2022

4. Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group

Author

Jia, Tianye, Chu, Congying, Liu, Yun, van Dongen, Jenny, Papastergios, Evangelos, Armstrong, Nicola J, Bastin, Mark E, Carrillo-Roa, Tania, den Braber, Anouk, Harris, Mathew, Jansen, Rick, Liu, Jingyu, Luciano, Michelle, Ori, Anil PS, Roiz Santiañez, Roberto, Ruggeri, Barbara, Sarkisyan, Daniil, Shin, Jean, Sungeun, Kim, Tordesillas Gutiérrez, Diana, van’t Ent, Dennis, Ames, David, Artiges, Eric, Bakalkin, Georgy, Banaschewski, Tobias, Bokde, Arun LW, Brodaty, Henry, Bromberg, Uli, Brouwer, Rachel, Büchel, Christian, Burke Quinlan, Erin, Cahn, Wiepke, de Zubicaray, Greig I, Ehrlich, Stefan, Ekström, Tomas J, Flor, Herta, Fröhner, Juliane H, Frouin, Vincent, Garavan, Hugh, Gowland, Penny, Heinz, Andreas, Hoare, Jacqueline, Ittermann, Bernd, Jahanshad, Neda, Jiang, Jiyang, Kwok, John B, Martin, Nicholas G, Martinot, Jean-Luc, Mather, Karen A, McMahon, Katie L, McRae, Allan F, Nees, Frauke, Papadopoulos Orfanos, Dimitri, Paus, Tomáš, Poustka, Luise, Sämann, Philipp G, Schofield, Peter R, Smolka, Michael N, Stein, Dan J, Strike, Lachlan T, Teeuw, Jalmar, Thalamuthu, Anbupalam, Trollor, Julian, Walter, Henrik, Wardlaw, Joanna M, Wen, Wei, Whelan, Robert, Apostolova, Liana G, Binder, Elisabeth B, Boomsma, Dorret I, Calhoun, Vince, Crespo-Facorro, Benedicto, Deary, Ian J, Hulshoff Pol, Hilleke, Ophoff, Roel A, Pausova, Zdenka, Sachdev, Perminder S, Saykin, Andrew, Wright, Margaret J, Thompson, Paul M, Schumann, Gunter, and Desrivières, Sylvane

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Mental Health, Neurosciences, Genetics, Human Genome, Diabetes, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Mental health, CpG Islands, DNA Methylation, Epigenesis, Genetic, Epigenome, Genome-Wide Association Study, Humans, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)-three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions.

Published
2021

6. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Author

Sønderby, Ida E, Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P, Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J, Lundervold, Arvid, Martin, Nicholas G, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W, Murray, Robin, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, and Prieto, Carlos

Subjects
Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, Autism, Biomedical Imaging, Mental Health, Mental health, Adult, Autism Spectrum Disorder, Autistic Disorder, Basal Ganglia, Brain, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Databases, Factual, Female, Globus Pallidus, Humans, Image Processing, Computer-Assisted, Intellectual Disability, Magnetic Resonance Imaging, Male, Middle Aged, Neurodevelopmental Disorders, Organ Size, Putamen, Schizophrenia, 16p11.2 European Consortium, for the ENIGMA-CNV working group, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = -0.71 to -1.37; P

Published
2020

7. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Author

Sønderby, Ida E, Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P, Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J, Lundervold, Arvid, Martin, Nicholas G, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W, Murray, Robin, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, and Prieto, Carlos

Subjects
16p11.2 European Consortium, for the ENIGMA-CNV working group, Neurosciences, Psychiatry, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract

Prior to and following the publication of this article the authors noted that the complete list of authors was not included in the main article and was only present in Supplementary Table 1. The author list in the original article has now been updated to include all authors, and Supplementary Table 1 has been removed. All other supplementary files have now been updated accordingly. Furthermore, in Table 1 of this Article, the replication cohort for the row Close relative in data set, n (%) was incorrect. All values have now been corrected to 0(0%). The publishers would like to apologise for this error and the inconvenience it may have caused.

Published
2020

8. Genetic architecture of subcortical brain structures in 38,851 individuals

Author

Satizabal, Claudia L, Adams, Hieab HH, Hibar, Derrek P, White, Charles C, Knol, Maria J, Stein, Jason L, Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady V, Smith, Albert V, Bis, Joshua C, Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J, Yang, Jingyun, Yanek, Lisa R, Lee, Tom V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D, Desrivières, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentería, Miguel E, Kim, Sungeun, Hoehn, David, Armstrong, Nicola J, Chen, Qiang, Holmes, Avram J, den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santiañez, Roberto, Kraemer, Bernd, Håberg, Asta K, Jones, Hannah J, Pike, G Bruce, Stein, Dan J, Stevens, Allison, Bralten, Janita, Vernooij, Meike W, Harris, Tamara B, Filippi, Irina, Witte, A Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H, Becker, James T, Doan, Nhat Trung, Hagenaars, Saskia P, Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M, Ames, David, Goldman, Aaron L, Lee, Phil H, Boomsma, Dorret I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M, Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M, Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E, Shin, Jean, Ipser, Jonathan C, Vinke, Louis N, Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K, Aribisala, Benjamin S, and Schmidt, Helena

Subjects
Biological Sciences, Genetics, Brain Disorders, Mental Health, Neurosciences, Human Genome, 2.1 Biological and endogenous factors, Neurological, Adult, Aged, Animals, Brain, Cohort Studies, Drosophila melanogaster, Genetic Variation, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Middle Aged, Neurodevelopmental Disorders, Organ Size, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Published
2019

10. Development of thresholds and a visualization tool for use of a blood test in routine clinical dementia practice.

Author

Verberk, Inge M. W., Jutte, Jolien, Kingma, Maurice Y., Vigneswaran, Sinthujah, Gouda, Mariam M. T. E. E., van Engelen, Marie‐Paule, Alcolea, Daniel, Arranz, Javier, Fortea, Juan, Lleó, Alberto, Chevalier, Claire, Marizzoni, Moira, van de Giessen, Elsmarieke M., Lemstra, Afina W., Pijnenburg, Yolande A. L., van der Flier, Wiesje M., den Braber, Anouk, Wilson, David, Schut, Martijn C., and van Harten, Argonde C.

Published
2024
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12. Novel genetic loci associated with hippocampal volume.

Author

Hibar, Derrek P, Adams, Hieab HH, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher RK, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David CM, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, and Teumer, Alexander

Subjects
Hippocampus, Humans, Alzheimer Disease, Genetic Predisposition to Disease, Protein-Serine-Threonine Kinases, Glycoproteins, Microtubule-Associated Proteins, Nerve Tissue Proteins, Organ Size, Cohort Studies, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Genome-Wide Association Study, Young Adult, Methionine Sulfoxide Reductases, Genetic Loci, Dipeptidyl Peptidase 4, Human Genome, Aging, Brain Disorders, Clinical Research, Acquired Cognitive Impairment, Neurodegenerative, Dementia, Neurosciences, Prevention, Genetics, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Mental Health, 2.1 Biological and endogenous factors, Mental health, Neurological
Abstract

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg=-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

Published
2017

13. Contributions of amyloid beta and cerebral small vessel disease in clinical decline

Author

Moonen, Justine E. F., primary, Haan, Renée, additional, Bos, Isabelle, additional, Teunissen, Charlotte, additional, van de Giessen, Elsmarieke, additional, Tomassen, Jori, additional, den Braber, Anouk, additional, van der Landen, Sophie M., additional, de Geus, Eco J. C., additional, Legdeur, Nienke, additional, van Harten, Argonde C., additional, Trieu, Calvin, additional, de Boer, Casper, additional, Kroeze, Lior, additional, Barkhof, Frederik, additional, Visser, Pieter Jelle, additional, and van der Flier, Wiesje M., additional

Published
2023
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14. Longitudinal tau binding in tau‐PET negative patients with clinical Alzheimer’s disease

Author

Rikken, Roos M., primary, Coomans, Emma M., additional, de Koning, Lotte A., additional, Visser, Denise, additional, Verfaillie, Sander C.J., additional, den Braber, Anouk, additional, Collij, Lyduine E., additional, Golla, Sandeep S.V., additional, Barkhof, Frederik, additional, Visser, Pieter Jelle, additional, Scheltens, Philip, additional, van der Flier, Wiesje M., additional, Boellaard, Ronald, additional, Ossenkoppele, Rik, additional, van Berckel, Bart N.M., additional, Vijverberg, Everard G.B., additional, and van de Giessen, Elsmarieke, additional

Published
2023
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16. Automated FreeSurfer segmentation and visual quality control in 10,000 MRI scans from a large memory clinic cohort

Author

Bocancea, Diana I., primary, den Braber, Anouk, additional, Jiang, Chenyang, additional, Coomans, Emma M., additional, van Unnik, Annemartijn A. J. M., additional, van Veen, Julia M.L., additional, Ribberink, Marieke, additional, Reijner, Niels, additional, Saddal, Shalina, additional, Mastenbroek, Sophie E, additional, van Gils, Aniek M., additional, Kluin, Caro M., additional, de Leeuw, Diederick Martijn, additional, Vromen, Eleonora M., additional, Bekkers, Lotta, additional, Georgallidou, Margarita, additional, van der Landen, Sophie M., additional, Baumann, Jana M., additional, Heuvelink, Joost, additional, Reus, Lianne M., additional, Lorenzini, Luigi, additional, Kamps, Suzie, additional, Bouman, Sophie P.H., additional, Singleton, Ellen Hanna, additional, de Boer, Sterre C.M., additional, Rousset, Rebecca Z., additional, Kuijper, Bart, additional, Verhagen, Eline, additional, Smit, Dimas, additional, Rikken, Roos M., additional, Visser, Pieter Jelle, additional, Bouwman, Femke H., additional, Barkhof, Frederik, additional, Lemstra, Afina W., additional, Pijnenburg, Yolande A.L., additional, van der Flier, Wiesje M., additional, Venkatraghavan, Vikram, additional, and Tijms, Betty M., additional

Published
2023
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17. Hyperspectral retinal imaging as a biomarker for Alzheimer’s disease

Author

Thach, Michelle, primary, de Ruyter, Frederique J. Hart, additional, Curro‐Tafili, Katie R., additional, van de Giessen, Elsmarieke, additional, Collij, Lyduine E., additional, den Braber, Anouk, additional, Tan, H. Stevie, additional, Visser, Pieter Jelle, additional, Verbraak, Frank D., additional, Osseiran, Sam, additional, Grondin, Jean‐Sébastien, additional, Orellina, Julie Antonelle, additional, Campbell, Shannon, additional, Chevrefils, Claudia, additional, Sylvestre, Jean‐Philippe, additional, and Bouwman, Femke H., additional

Published
2023
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18. Tau‐PET signal in Alzheimer’s disease is related to immune activation and synaptic signaling measured with CSF proteomics

Author

Rikken, Roos M., primary, Vromen, Eleonora M., additional, Coomans, Emma M., additional, Visser, Denise, additional, Barkhof, Frederik, additional, Boellaard, Ronald, additional, Golla, Sandeep S.V., additional, van Berckel, Bart N.M., additional, Ossenkoppele, Rik, additional, den Braber, Anouk, additional, Vijverberg, Everard G.B., additional, van der Flier, Wiesje M., additional, Pijnenburg, Yolande A.L., additional, Teunissen, Charlotte E., additional, Visser, Pieter Jelle, additional, van de Giessen, Elsmarieke, additional, and Tijms, Betty M., additional

Published
2023
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19. CSF proteome profiling reveals a protein panel detecting amyloidosis and progression to dementia in cognitively unimpaired individuals

Author

del Campo, Marta, primary, Quesada, Carlos, additional, Vermunt, Lisa, additional, Peeters, Carel F.W., additional, Hok‐A‐Hin, Yanaika S., additional, den Braber, Anouk, additional, Verberk, Inge M.W., additional, Visser, Pieter Jelle, additional, Tijms, Betty M., additional, van der Flier, Wiesje M., additional, and Teunissen, Charlotte E., additional

Published
2023
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20. A prospective study investigating the relation between blood‐based biomarkers for Alzheimer’s disease and diagnosis/patient management in primary care: The CANTATE‐PC study

Author

Claessen, Thomas, primary, Vigneswaran, Sinthujah, additional, Verberk, Inge M.W., additional, den Braber, Anouk, additional, Smit, Maartje, additional, Wilson, David, additional, Nierman, Melchior C., additional, Kooren, Jurgen A., additional, van der Flier, Wiesje M., additional, van Harten, Argonde C., additional, and Teunissen, Charlotte E., additional

Published
2023
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21. Mastermind of the Alzheimer’s blood‐based biomarkers: development of cutoffs and a visualization tool for use in clinical practice

Author

Verberk, Inge M.W., primary, Kingma, Maurice Y., additional, van Harten, Argonde C., additional, den Braber, Anouk, additional, Vigneswaran, Sinthujah, additional, Gouda, Mariam, additional, van Engelen, Marie‐Paule E., additional, Lemstra, Afina W., additional, Pijnenburg, Yolande A.L., additional, van der Flier, Wiesje M., additional, Schut, Martijn C., additional, Wilson, David, additional, and Teunissen, Charlotte E., additional

Published
2023
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22. Data‐driven analysis of most common neurodegenerative dementias reveals atrophy patterns associated with overlapping cognitive symptoms

Author

Venkatraghavan, Vikram, primary, Bocancea, Diana I., additional, den Braber, Anouk, additional, Dubbelman, Mark A., additional, Jiang, Chenyang, additional, Coomans, Emma M., additional, van Unnik, Annemartijn A. J. M., additional, van Veen, Julia M.L., additional, Ribberink, Marieke, additional, Reijner, Niels, additional, Saddal, Shalina, additional, Mastenbroek, Sophie E, additional, van Gils, Aniek M., additional, Kluin, Caro M., additional, de Leeuw, Diederick Martijn, additional, Vromen, Eleonora M., additional, Bekkers, Lotta, additional, Georgallidou, Margarita, additional, van der Landen, Sophie M., additional, Baumann, Janna M., additional, Heuvelink, Joost, additional, Reus, Lianne M., additional, Lorenzini, Luigi, additional, Kamps, Suzie, additional, Bouman, Sophie P.H., additional, Singleton, Ellen Hanna, additional, de Boer, Sterre C.M., additional, Rousset, Rebecca Z., additional, Kuijper, Bart, additional, Verhagen, Eline, additional, Smit, Dimas, additional, Rikken, Roos M., additional, Sikkes, Sietske A.M., additional, Visser, Pieter Jelle, additional, Bouwman, Femke H., additional, Barkhof, Frederik, additional, Lemstra, Afina W., additional, Pijnenburg, Yolande A.L., additional, van der Flier, Wiesje M., additional, and Tijms, Betty M., additional

Published
2023
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26. In vivo tau pathology is associated with synaptic loss and altered synaptic function

Author

Coomans, Emma M., Schoonhoven, Deborah N., Tuncel, Hayel, Verfaillie, Sander C. J., Wolters, Emma E., Boellaard, Ronald, Ossenkoppele, Rik, den Braber, Anouk, Scheper, Wiep, Schober, Patrick, Sweeney, Steven P., Ryan, J. Michael, Schuit, Robert C., Windhorst, Albert D., Barkhof, Frederik, Scheltens, Philip, Golla, Sandeep S. V., Hillebrand, Arjan, Gouw, Alida A., and van Berckel, Bart N. M.

Published
2021
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28. Common genetic variants influence human subcortical brain structures

Author

Hibar, Derrek P, Stein, Jason L, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivières, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Mallar Chakravarty, M, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Olde Loohuis, Loes M, Luciano, Michelle, Macare, Christine, Mather, Karen A, Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rose, Emma J, Salami, Alireza, Sämann, Philipp G, Schmaal, Lianne, Schork, Andrew J, Shin, Jean, Strike, Lachlan T, Teumer, Alexander, van Donkelaar, Marjolein MJ, van Eijk, Kristel R, Walters, Raymond K, Westlye, Lars T, Whelan, Christopher D, Winkler, Anderson M, Zwiers, Marcel P, Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina MH, Hartberg, Cecilie B, Haukvik, Unn K, Heister, Angelien JGAM, Hoehn, David, Kasperaviciute, Dalia, Liewald, David CM, Lopez, Lorna M, Makkinje, Remco RR, Matarin, Mar, Naber, Marlies AM, Reese McKay, D, Needham, Margaret, Nugent, Allison C, Pütz, Benno, Royle, Natalie A, Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia SL, van Hulzen, Kimm JE, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Cichon, Sven, Corvin, Aiden, Curran, Joanne E, and Czisch, Michael

Subjects
Biological Psychology, Biological Sciences, Genetics, Psychology, Brain Disorders, Human Genome, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Mental health, Adolescent, Adult, Aged, Aged, 80 and over, Aging, Apoptosis, Brain, Caudate Nucleus, Child, Female, Gene Expression Regulation, Developmental, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Hippocampus, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins, Middle Aged, Organ Size, Putamen, Sex Characteristics, Skull, Young Adult, Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN, IMAGEN, SYS, General Science & Technology
Abstract

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

Published
2015

30. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Author

Thompson, Paul M, Stein, Jason L, Medland, Sarah E, Hibar, Derrek P, Vasquez, Alejandro Arias, Renteria, Miguel E, Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J, Martin, Nicholas G, Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C, Andreassen, Ole A, Apostolova, Liana G, Appel, Katja, Armstrong, Nicola J, Aribisala, Benjamin, Bastin, Mark E, Bauer, Michael, Bearden, Carrie E, Bergmann, Ørjan, Binder, Elisabeth B, Blangero, John, Bockholt, Henry J, Bøen, Erlend, Bois, Catherine, Boomsma, Dorret I, Booth, Tom, Bowman, Ian J, Bralten, Janita, Brouwer, Rachel M, Brunner, Han G, Brohawn, David G, Buckner, Randy L, Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R, Calhoun, Vince D, Cannon, Dara M, Cantor, Rita M, Carless, Melanie A, Caseras, Xavier, Cavalleri, Gianpiero L, Chakravarty, M Mallar, Chang, Kiki D, Ching, Christopher RK, Christoforou, Andrea, Cichon, Sven, Clark, Vincent P, Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Deary, Ian J, de Geus, Eco JC, den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I, Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D, Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernández, Guillén, Fisher, Simon E, Foroud, Tatiana, Fox, Peter T, Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C, Godlewska, Beata, Goldstein, Rita Z, Gollub, Randy L, and Grabe, Hans J

Subjects
Biological Psychology, Health Sciences, Psychology, Brain Disorders, Schizophrenia, Human Genome, Biomedical Imaging, Genetics, Mental Illness, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Neurological, Mental health, Good Health and Well Being, Brain Mapping, Cooperative Behavior, Genome-Wide Association Study, Humans, Meta-Analysis as Topic, Neuroimaging, MRI, GWAS, Consortium, Meta-analysis, Multi-site, Alzheimer’s Disease Neuroimaging Initiative, EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study (SYS) Group, Medical and Health Sciences, Psychology and Cognitive Sciences, Experimental Psychology, Biomedical and clinical sciences, Health sciences
Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

Published
2014

31. Contributions of amyloid beta and cerebral small vessel disease in clinical decline.

Author

Moonen, Justine E. F., Haan, Renée, Bos, Isabelle, Teunissen, Charlotte, van de Giessen, Elsmarieke, Tomassen, Jori, den Braber, Anouk, van der Landen, Sophie M., de Geus, Eco J. C., Legdeur, Nienke, van Harten, Argonde C., Trieu, Calvin, de Boer, Casper, Kroeze, Lior, Barkhof, Frederik, Visser, Pieter Jelle, and van der Flier, Wiesje M.

Abstract

INTRODUCTION: We assessed whether co‐morbid small vessel disease (SVD) has clinical predictive value in preclinical or prodromal Alzheimer's disease. METHODS: In 1090 non‐demented participants (65.4 ± 10.7 years) SVD was assessed with magnetic resonance imaging and amyloid beta (Aβ) with lumbar puncture and/or positron emission tomography scan (mean follow‐up for cognitive function 3.1 ± 2.4 years). RESULTS: Thirty‐nine percent had neither Aβ nor SVD (A–V–), 21% had SVD only (A–V+), 23% Aβ only (A+V–), and 17% had both (A+V+). Pooled cohort linear mixed model analyses demonstrated that compared to A–V– (reference), A+V– had a faster rate of cognitive decline. Co‐morbid SVD (A+V+) did not further increase rate of decline. Cox regression showed that dementia risk was modestly increased in A–V+ (hazard ratio [95% confidence interval: 1.8 [1.0–3.2]) and most strongly in A+ groups. Also, mortality risk was increased in A+ groups. DISCUSSION: In non‐demented persons Aβ was predictive of cognitive decline, dementia, and mortality. SVD modestly predicts dementia in A–, but did not increase deleterious effects in A+. Highlights: Amyloid beta (Aβ; A) was predictive for cognitive decline, dementia, and mortality.Small vessel disease (SVD) had no additional deleterious effects in A+.SVD modestly predicted dementia in A–.Aβ should be assessed even when magnetic resonance imaging indicates vascular cognitive impairment. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Performance of a [18F]Flortaucipir PET Visual Read Method Across the Alzheimer Disease Continuum and in Dementia With Lewy Bodies

Author

Coomans, Emma M., primary, de Koning, Lotte A., additional, Rikken, Roos M., additional, Verfaillie, Sander C.J., additional, Visser, Denise, additional, den Braber, Anouk, additional, Tomassen, Jori, additional, van de Beek, Marleen, additional, Collij, Lyduine E., additional, Lemstra, Afina W., additional, Windhorst, Albert D., additional, Barkhof, Frederik, additional, Golla, Sandeep S.V., additional, Visser, Pieter Jelle, additional, Scheltens, Philip, additional, van der Flier, Wiesje M., additional, Ossenkoppele, Rik, additional, van Berckel, Bart N.M., additional, and van de Giessen, Elsmarieke, additional

Published
2023
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33. Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes

Author

Reus, Lianne M., primary, Boltz, Toni, additional, Francia, Marcelo, additional, Bot, Merel, additional, Ramesh, Naren, additional, Koromina, Maria, additional, Pijnenburg, Yolande A.L., additional, den Braber, Anouk, additional, van der Flier, Wiesje M., additional, Visser, Pieter Jelle, additional, van der Lee, Sven J, additional, Tijms, Betty, additional, Teunissen, Charlotte E., additional, Olde Loohuis, Loes M, additional, and Ophoff, Roel A., additional

Published
2023
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35. Genetic variants for head size share genes and pathways with cancer

Author

Amouyel, Philippe, Arfanakis, Konstantinos, Aribisala, Benjamin S., Bastin, Mark E., Chauhan, Ganesh, Chen, Christopher, Cheng, Ching-Yu, de Jager, Philip L., Deary, Ian J., Fleischman, Debra A., Gottesman, Rebecca F., Gudnason, Vilmundur, Hilal, Saima, Hofer, Edith, Janowitz, Deborah, Jukema, J. Wouter, Liewald, David C.M., Lopez, Lorna M., Lopez, Oscar, Luciano, Michelle, Martinez, Oliver, Niessen, Wiro J., Nyquist, Paul, Rotter, Jerome I., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Helena, Tiemeier, Henning, Trompet, Stella, van der Grond, Jeroen, Völzke, Henry, Wardlaw, Joanna M., Yanek, Lisa, Yang, Jingyun, Agartz, Ingrid, Alhusaini, Saud, Almasy, Laura, Ames, David, Amunts, Katrin, Andreassen, Ole A., Armstrong, Nicola, Bernard, Manon, Blangero, John, Blanken, Laura M.E., Boks, Marco P., Boomsma, Dorret I., Brickman, Adam M., Brodaty, Henry, Buckner, Randy L., Buitelaar, Jan K., Cannon, Dara M., Carr, Vaughan J., Catts, Stanley V., Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R.K., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Davies, Gareth E., de Geus, Eco J.C., de Zubicaray, Greig I., den Braber, Anouk, Desrivières, Sylvane, Dillman, Allissa, Djurovic, Srdjan, Drevets, Wayne C., Duggirala, Ravi, Ehrlich, Stefan, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O., Fernández, Guillén, Fisher, Simon E., Foroud, Tatiana M., Ge, Tian, Giddaluru, Sudheer, Glahn, David C., Goldman, Aaron L., Green, Robert C., Greven, Corina U., Grimm, Oliver, Hansell, Narelle K., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Henskens, Frans, Hibar, Derrek P., Ho, Beng-Choon, Hoekstra, Pieter J., Holmes, Avram J., Hoogman, Martine, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Jablensky, Assen, Jenkinson, Mark, Jia, Tianye, Jöckel, Karl-Heinz, Jönsson, Erik G., Kim, Sungeun, Klein, Marieke, Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Le Hellard, Stephanie, Lemaître, Hervé, Loughland, Carmel, Marquand, Andre F., Martin, Nicholas G., Martinot, Jean-Luc, Matarin, Mar, Mathalon, Daniel H., Mather, Karen A., Mattay, Venkata S., McDonald, Colm, McMahon, Francis J., McMahon, Katie L., E, Rebekah, McWhirter, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Michie, Patricia T., Milaneschi, Yuri, Morris, Derek W., Mowry, Bryan, Nho, Kwangsik, Nichols, Thomas E., Nöthen, Markus N., Olvera, Rene L., Oosterlaan, Jaap, Ophoff, Roel A., Pandolfo, Massimo, Pantelis, Christos, Pappa, Irene, Penninx, Brenda, Pike, G. Bruce, Rasser, Paul E., Rentería, Miguel E., Reppermund, Simone, Rietschel, Marcella, Risacher, Shannon L., Romanczuk-Seiferth, Nina, Rose, Emma Jane, Sachdev, Perminder S., Sämann, Philipp G., Saykin, Andrew J., Schall, Ulrich, Schofield, Peter R., Schramm, Sara, Schumann, Gunter, Scott, Rodney, Shen, Li, Sisodiya, Sanjay M., Soininen, Hilkka, Sprooten, Emma, Srikanth, Velandai, Steen, Vidar M., Strike, Lachlan T., Thalamuthu, Anbupalam, Toga, Arthur W., Tooney, Paul, Tordesillas-Gutiérrez, Diana, Turner, Jessica A., Valdés Hernández, Maria del C., van der Meer, Dennis, Van der Wee, Nic J.A., Van Haren, Neeltje E.M., van 't Ent, Dennis, Veltman, Dick J., Walter, Henrik, Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westlye, Lars T., Westman, Eric, Winkler, Anderson M., Woldehawariat, Girma, Wright, Margaret J., Wu, Jingqin, Knol, Maria J., Poot, Raymond A., Evans, Tavia E., Satizabal, Claudia L., Mishra, Aniket, Sargurupremraj, Muralidharan, van der Auwera, Sandra, Duperron, Marie-Gabrielle, Jian, Xueqiu, Hostettler, Isabel C., van Dam-Nolen, Dianne H.K., Lamballais, Sander, Pawlak, Mikolaj A., Lewis, Cora E., Carrion-Castillo, Amaia, van Erp, Theo G.M., Reinbold, Céline S., Shin, Jean, Scholz, Markus, Håberg, Asta K., Kämpe, Anders, Li, Gloria H.Y., Avinun, Reut, Atkins, Joshua R., Hsu, Fang-Chi, Amod, Alyssa R., Lam, Max, Tsuchida, Ami, Teunissen, Mariël W.A., Aygün, Nil, Patel, Yash, Liang, Dan, Beiser, Alexa S., Beyer, Frauke, Bis, Joshua C., Bos, Daniel, Bryan, R. Nick, Bülow, Robin, Caspers, Svenja, Catheline, Gwenaëlle, Cecil, Charlotte A.M., Dalvie, Shareefa, Dartigues, Jean-François, DeCarli, Charles, Enlund-Cerullo, Maria, Ford, Judith M., Franke, Barbara, Freedman, Barry I., Friedrich, Nele, Green, Melissa J., Haworth, Simon, Helmer, Catherine, Hoffmann, Per, Homuth, Georg, Ikram, M. Kamran, Jack, Clifford R., Jr., Jahanshad, Neda, Jockwitz, Christiane, Kamatani, Yoichiro, Knodt, Annchen R., Li, Shuo, Lim, Keane, Longstreth, W.T., Macciardi, Fabio, Mäkitie, Outi, Mazoyer, Bernard, Medland, Sarah E., Miyamoto, Susumu, Moebus, Susanne, Mosley, Thomas H., Muetzel, Ryan, Mühleisen, Thomas W., Nagata, Manabu, Nakahara, Soichiro, Palmer, Nicholette D., Pausova, Zdenka, Preda, Adrian, Quidé, Yann, Reay, William R., Roshchupkin, Gennady V., Schmidt, Reinhold, Schreiner, Pamela J., Setoh, Kazuya, Shapland, Chin Yang, Sidney, Stephen, St Pourcain, Beate, Stein, Jason L., Tabara, Yasuharu, Teumer, Alexander, Uhlmann, Anne, van der Lugt, Aad, Vernooij, Meike W., Werring, David J., Windham, B. Gwen, Witte, A. Veronica, Wittfeld, Katharina, Yang, Qiong, Yoshida, Kazumichi, Brunner, Han G., Le Grand, Quentin, Sim, Kang, Stein, Dan J., Bowden, Donald W., Cairns, Murray J., Hariri, Ahmad R., Cheung, Ching-Lung, Andersson, Sture, Villringer, Arno, Paus, Tomas, Cichon, Sven, Calhoun, Vince D., Crivello, Fabrice, Launer, Lenore J., White, Tonya, Koudstaal, Peter J., Houlden, Henry, Fornage, Myriam, Matsuda, Fumihiko, Grabe, Hans J., Ikram, M. Arfan, Debette, Stéphanie, Thompson, Paul M., Seshadri, Sudha, and Adams, Hieab H.H.

Published
2024
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37. Large-scale cerebrospinal fluid proteomic analysis in Alzheimer's disease patients reveals five molecular subtypes with distinct genetic risk profiles.

Author

Tijms, Betty M, primary, Vromen, Ellen M, additional, Mjaavatten, Olav, additional, Holstege, Henne, additional, Reus, Lianne M, additional, van der Lee, Sven J, additional, Wesenhagen, Kirsten, additional, Lorenzini, Luigi, additional, Vermunt, Lisa, additional, Venkatraghavan, Vikram, additional, Tesi, Niccolo, additional, Tomassen, Jori, additional, den Braber, Anouk, additional, Goossens, Julie, additional, Vanmechelen, Eugeen, additional, Barkhof, Frederik, additional, Pijnenburg, Yolande AL, additional, van der Flier, Wiesje M, additional, Teunissen, Charlotte E, additional, Berven, Frode, additional, and Visser, Pieter Jelle, additional

Published
2023
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38. Genetically identical twin-pair difference models support the amyloid cascade hypothesis

Author

Coomans, Emma M, primary, Tomassen, Jori, additional, Ossenkoppele, Rik, additional, Tijms, Betty M, additional, Lorenzini, Luigi, additional, ten Kate, Mara, additional, Collij, Lyduine E, additional, Heeman, Fiona, additional, Rikken, Roos M, additional, van der Landen, Sophie M, additional, den Hollander, Marijke E, additional, Golla, Sandeep S V, additional, Yaqub, Maqsood, additional, Windhorst, Albert D, additional, Barkhof, Frederik, additional, Scheltens, Philip, additional, de Geus, Eco J C, additional, Visser, Pieter Jelle, additional, van Berckel, Bart N M, additional, and den Braber, Anouk, additional

Published
2023
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39. Performance of a [18F]Flortaucipir PET Visual Read Method Across the Alzheimer Disease Continuum and in Dementia With Lewy Bodies.

Author

Coomans, Emma M., de Koning, Lotte A., Rikken, Roos M., Verfaillie, Sander C. J., Visser, Denise, den Braber, Anouk, Tomassen, Jori, van de Beek, Marleen, Collij, Lyduine E., Lemstra, Afina W., Windhorst, Albert D., Barkhof, Frederik, Golla, Sandeep S. V., Visser, Pieter Jelle, Scheltens, Philip, van der Flier, Wiesje M., Ossenkoppele, Rik, van Berckel, Bart N. M., and van de Giessen, Elsmarieke

Published
2023
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40. Distinct disease mechanisms may underlie cognitive decline related to hearing loss in different age groups

Author

van 't Hooft, Jochum J, primary, Pelkmans, Wiesje, additional, Tomassen, Jori, additional, Smits, Cas, additional, Legdeur, Nienke, additional, den Braber, Anouk, additional, Barkhof, Frederik, additional, van Berckel, Bart, additional, Yaqub, Maqsood, additional, Scheltens, Philip, additional, Pijnenburg, Yolande AL, additional, Visser, Pieter Jelle, additional, and Tijms, Betty M, additional

Published
2023
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41. Plasma biomarkers predict amyloid pathology in cognitively normal monozygotic twins after 10 years

Author

den Braber, Anouk, primary, Verberk, Inge M W, additional, Tomassen, Jori, additional, den Dulk, Ben, additional, Stoops, Erik, additional, Dage, Jeffrey L, additional, Collij, Lyduine E, additional, Barkhof, Frederik, additional, Willemsen, Gonneke, additional, Nivard, Michel G, additional, van Berckel, Bart N M, additional, Scheltens, Philip, additional, Visser, Pieter Jelle, additional, de Geus, Eco J C, additional, and Teunissen, Charlotte E, additional

Published
2022
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42. Value of plasma biomarkers to predict memory change in cognitively unimpaired individuals

Author

den Braber, Anouk, primary, Verberk, Inge M.W., additional, Tomassen, Jori, additional, Coomans, Emma M, additional, van der Landen, Sophie M, additional, Boonkamp, Lynn, additional, Dage, Jeffrey L., additional, Stoops, Erik, additional, Willemsen, Gonneke, additional, Nivard, Michel G., additional, van Berckel, Bart NM, additional, Scheltens, Philip, additional, Visser, Pieter Jelle, additional, de Geus, Eco J.C., additional, and Teunissen, Charlotte E., additional

Published
2022
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43. Spatial‐temporal subtypes of amyloid deposition show distinct baseline and longitudinal cognitive profiles

Author

Mastenbroek, Sophie E, primary, Salvadó, Gemma, additional, Alves, Isadora Lopes, additional, Wottschel, Viktor, additional, den Braber, Anouk, additional, Visser, Pieter Jelle, additional, Gispert, Juan Domingo, additional, Hansson, Oskar, additional, Barkhof, Frederik, additional, Ossenkoppele, Rik, additional, and Collij, Lyduine E., additional

Published
2022
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45. Testing causality in the association between amyloid‐β and tau in genetically identical twins

Author

Coomans, Emma M, primary, Tomassen, Jori, additional, Ossenkoppele, Rik, additional, Konijnenberg, Elles, additional, Rikken, Roos M., additional, Collij, Lyduine E., additional, Golla, Sandeep SV, additional, Windhorst, Albert D., additional, Tijms, Betty M., additional, Barkhof, Frederik, additional, Scheltens, Philip, additional, de Geus, Eco J.C., additional, Visser, Pieter Jelle, additional, van Berckel, Bart NM, additional, and den Braber, Anouk, additional

Published
2022
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46. The EMIF-AD PreclinAD study: study design and baseline cohort overview

Author

Konijnenberg, Elles, Carter, Stephen F., ten Kate, Mara, den Braber, Anouk, Tomassen, Jori, Amadi, Chinenye, Wesselman, Linda, Nguyen, Hoang-Ton, van de Kreeke, Jacoba A., Yaqub, Maqsood, Demuru, Matteo, Mulder, Sandra D., Hillebrand, Arjan, Bouwman, Femke H., Teunissen, Charlotte E., Serné, Erik H., Moll, Annette C., Verbraak, Frank D., Hinz, Rainer, Pendleton, Neil, Lammertsma, Adriaan A., van Berckel, Bart N. M., Barkhof, Frederik, Boomsma, Dorret I., Scheltens, Philip, Herholz, Karl, and Visser, Pieter Jelle

Published
2018
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48. The adult Netherlands twin register: Twenty-five years of survey and biological data collection

Author

Willemsen, Gonneke, Vink, Jacqueline M, den Braber, Anouk, van Beek, Jenny HDA, Draisma, Harmen HM, van Dongen, Jenny, van 't Ent, Dennis, Geels, Lot M, van Lien, Rene, Ligthart, Lannie, Kattenberg, Mathijs, Mbarek, Hamdi, de Moor, Marleen HM, Neijts, Melanie, Pool, Rene, Stroo, Natascha, Kluft, Cornelis, Suchiman, HEka D, Slagboom, PEline, de Geus, Eco JC, and Boomsma, Dorret I

Published
2013

50. Greater male than female variability in regional brain structure across the lifespan

Author

Wierenga, Lara M., Doucet, Gaelle E., Dima, Danai, Agartz, Ingrid, Aghajani, Moji, Akudjedu, Theophilus N., Albajes-Eizagirre, Anton, Alnaes, Dag, Alpert, Kathryn, I, Andreassen, Ole A., Anticevic, Alan, Asherson, Philip, Banaschewski, Tobias, Bargallo, Nuria, Baumeister, Sarah, Baur-Streubel, Ramona, Bertolino, Alessandro, Bonvino, Aurora, Boomsma, Dorret, I, Borgwardt, Stefan, Bourque, Josiane, den Braber, Anouk, Brandeis, Daniel, Breier, Alan, Brodaty, Henry, Brouwer, Rachel M., Buitelaar, Jan K., Busatto, Geraldo F., Calhoun, Vince D., Canales-Rodriguez, Erick J., Cannon, Dara M., Caseras, Xavier, Castellanos, Francisco X., Chaim-Avancini, Tiffany M., Ching, Christopher R. K., Clark, Vincent P., Conrod, Patricia J., Conzelmann, Annette, Crivello, Fabrice, Davey, Christopher G., Dickie, Erin W., Ehrlich, Stefan, Van't Ent, Dennis, Fisher, Simon E., Fouche, Jean-Paul, Franke, Barbara, Fuentes-Claramonte, Paola, de Geus, Eco J. C., Di Giorgio, Annabella, Glahn, David C., Gotlib, Ian H., Grabe, Hans J., Gruber, Oliver, Gruner, Patricia, Gur, Raquel E., Gur, Ruben C., Gurholt, Tiril P., de Haan, Lieuwe, Haatveit, Beathe, Harrison, Ben J., Hartman, Catharina A., Hatton, Sean N., Heslenfeld, Dirk J., van den Heuvel, Odile A., Hickie, Ian B., Hoekstra, Pieter J., Hohmann, Sarah, Holmes, Avram J., Hoogman, Martine, Hosten, Norbert, Howells, Fleur M., Pol, Hilleke E. Hulshoff, Huyser, Chaim, Jahanshad, Neda, James, Anthony C., Jiang, Jiyang, Jonsson, Erik G., Joska, John A., Kalnin, Andrew J., Klein, Marieke, Koenders, Laura, Kolskar, Knut K., Kramer, Bernd, Kuntsi, Jonna, Lagopoulos, Jim, Lazaro, Luisa, Lebedeva, Irina S., Lee, Phil H., Lochner, Christine, Machielsen, Marise W. J., Maingault, Sophie, Martin, Nicholas G., Martinez-Zalacain, Ignacio, Mataix-Cols, David, Mazoyer, Bernard, McDonald, Brenna C., McDonald, Colm, McIntosh, Andrew M., McMahon, Katie L., McPhilemy, Genevieve, van der Meer, Dennis, Menchon, Jose M., Naaijen, Jilly, Nyberg, Lars, Oosterlaan, Jaap, Paloyelis, Yannis, Pauli, Paul, Pergola, Giulio, Pomarol-Clotet, Edith, Portella, Maria J., Radua, Joaquim, Reif, Andreas, Richard, Genevieve, Roffman, Joshua L., Rosa, Pedro G. P., Sacchet, Matthew D., Sachdev, Perminder S., Salvador, Raymond, Sarro, Salvador, Satterthwaite, Theodore D., Saykin, Andrew J., Serpa, Mauricio H., Sim, Kang, Simmons, Andrew, Smoller, Jordan W., Sommer, Iris E., Soriano-Mas, Carles, Stein, Dan J., Strike, Lachlan T., Szeszko, Philip R., Temmingh, Henk S., Thomopoulos, Sophia, I, Tomyshev, Alexander S., Trollor, Julian N., Uhlmann, Anne, Veer, Ilya M., Veltman, Dick J., Voineskos, Aristotle, Volzke, Henry, Walter, Henrik, Wang, Lei, Wang, Yang, Weber, Bernd, Wen, Wei, West, John D., Westlye, Lars T., Whalley, Heather C., Williams, Steven C. R., Wittfeld, Katharina, Wolf, Daniel H., Wright, Margaret J., Yoncheva, Yuliya N., Zanetti, Marcus, V, Ziegler, Georg C., de Zubicaray, Greig, I, Thompson, Paul M., Crone, Eveline A., Frangou, Sophia, Tamnes, Christian K., Wierenga, Lara M., Doucet, Gaelle E., Dima, Danai, Agartz, Ingrid, Aghajani, Moji, Akudjedu, Theophilus N., Albajes-Eizagirre, Anton, Alnaes, Dag, Alpert, Kathryn, I, Andreassen, Ole A., Anticevic, Alan, Asherson, Philip, Banaschewski, Tobias, Bargallo, Nuria, Baumeister, Sarah, Baur-Streubel, Ramona, Bertolino, Alessandro, Bonvino, Aurora, Boomsma, Dorret, I, Borgwardt, Stefan, Bourque, Josiane, den Braber, Anouk, Brandeis, Daniel, Breier, Alan, Brodaty, Henry, Brouwer, Rachel M., Buitelaar, Jan K., Busatto, Geraldo F., Calhoun, Vince D., Canales-Rodriguez, Erick J., Cannon, Dara M., Caseras, Xavier, Castellanos, Francisco X., Chaim-Avancini, Tiffany M., Ching, Christopher R. K., Clark, Vincent P., Conrod, Patricia J., Conzelmann, Annette, Crivello, Fabrice, Davey, Christopher G., Dickie, Erin W., Ehrlich, Stefan, Van't Ent, Dennis, Fisher, Simon E., Fouche, Jean-Paul, Franke, Barbara, Fuentes-Claramonte, Paola, de Geus, Eco J. C., Di Giorgio, Annabella, Glahn, David C., Gotlib, Ian H., Grabe, Hans J., Gruber, Oliver, Gruner, Patricia, Gur, Raquel E., Gur, Ruben C., Gurholt, Tiril P., de Haan, Lieuwe, Haatveit, Beathe, Harrison, Ben J., Hartman, Catharina A., Hatton, Sean N., Heslenfeld, Dirk J., van den Heuvel, Odile A., Hickie, Ian B., Hoekstra, Pieter J., Hohmann, Sarah, Holmes, Avram J., Hoogman, Martine, Hosten, Norbert, Howells, Fleur M., Pol, Hilleke E. Hulshoff, Huyser, Chaim, Jahanshad, Neda, James, Anthony C., Jiang, Jiyang, Jonsson, Erik G., Joska, John A., Kalnin, Andrew J., Klein, Marieke, Koenders, Laura, Kolskar, Knut K., Kramer, Bernd, Kuntsi, Jonna, Lagopoulos, Jim, Lazaro, Luisa, Lebedeva, Irina S., Lee, Phil H., Lochner, Christine, Machielsen, Marise W. J., Maingault, Sophie, Martin, Nicholas G., Martinez-Zalacain, Ignacio, Mataix-Cols, David, Mazoyer, Bernard, McDonald, Brenna C., McDonald, Colm, McIntosh, Andrew M., McMahon, Katie L., McPhilemy, Genevieve, van der Meer, Dennis, Menchon, Jose M., Naaijen, Jilly, Nyberg, Lars, Oosterlaan, Jaap, Paloyelis, Yannis, Pauli, Paul, Pergola, Giulio, Pomarol-Clotet, Edith, Portella, Maria J., Radua, Joaquim, Reif, Andreas, Richard, Genevieve, Roffman, Joshua L., Rosa, Pedro G. P., Sacchet, Matthew D., Sachdev, Perminder S., Salvador, Raymond, Sarro, Salvador, Satterthwaite, Theodore D., Saykin, Andrew J., Serpa, Mauricio H., Sim, Kang, Simmons, Andrew, Smoller, Jordan W., Sommer, Iris E., Soriano-Mas, Carles, Stein, Dan J., Strike, Lachlan T., Szeszko, Philip R., Temmingh, Henk S., Thomopoulos, Sophia, I, Tomyshev, Alexander S., Trollor, Julian N., Uhlmann, Anne, Veer, Ilya M., Veltman, Dick J., Voineskos, Aristotle, Volzke, Henry, Walter, Henrik, Wang, Lei, Wang, Yang, Weber, Bernd, Wen, Wei, West, John D., Westlye, Lars T., Whalley, Heather C., Williams, Steven C. R., Wittfeld, Katharina, Wolf, Daniel H., Wright, Margaret J., Yoncheva, Yuliya N., Zanetti, Marcus, V, Ziegler, Georg C., de Zubicaray, Greig, I, Thompson, Paul M., Crone, Eveline A., Frangou, Sophia, and Tamnes, Christian K.

Abstract

For many traits, males show greater variability than females, with possible implications for understanding sex differences in health and disease. Here, the ENIGMA (Enhancing Neuro Imaging Genetics through Meta-Analysis) Consortium presents the largest-ever mega-analysis of sex differences in variability of brain structure, based on international data spanning nine decades of life. Subcortical volumes, cortical surface area and cortical thickness were assessed in MRI data of 16,683 healthy individuals 1-90 years old (47% females). We observed significant patterns of greater male than female between-subject variance for all subcortical volumetric measures, all cortical surface area measures, and 60% of cortical thickness measures. This pattern was stable across the lifespan for 50% of the subcortical structures, 70% of the regional area measures, and nearly all regions for thickness. Our findings that these sex differences are present in childhood implicate early life genetic or gene-environment interaction mechanisms. The findings highlight the importance of individual differences within the sexes, that may underpin sex-specific vulnerability to disorders.

Published
2022
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