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1. Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries

Author

García-Marín, Luis M., Campos, Adrian I., Diaz-Torres, Santiago, Rabinowitz, Jill A., Ceja, Zuriel, Mitchell, Brittany L., Grasby, Katrina L., Thorp, Jackson G., Agartz, Ingrid, Alhusaini, Saud, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arfanakis, Konstantinos, Arias-Vasquez, Alejandro, Armstrong, Nicola J., Athanasiu, Lavinia, Bastin, Mark E., Beiser, Alexa S., Bennett, David A., Bis, Joshua C., Boks, Marco P. M., Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Buitelaar, Jan K., Burkhardt, Ralph, Cahn, Wiepke, Calhoun, Vince D., Carmichael, Owen T., Chakravarty, Mallar, Chen, Qiang, Ching, Christopher R. K., Cichon, Sven, Crespo-Facorro, Benedicto, Crivello, Fabrice, Dale, Anders M., Smith, George Davey, de Geus, Eco J. C., De Jager, Philip L., de Zubicaray, Greig I., Debette, Stéphanie, DeCarli, Charles, Depondt, Chantal, Desrivières, Sylvane, Djurovic, Srdjan, Ehrlich, Stefan, Erk, Susanne, Espeseth, Thomas, Fernández, Guillén, Filippi, Irina, Fisher, Simon E., Fleischman, Debra A., Fletcher, Evan, Fornage, Myriam, Forstner, Andreas J., Francks, Clyde, Franke, Barbara, Ge, Tian, Goldman, Aaron L., Grabe, Hans J., Green, Robert C., Grimm, Oliver, Groenewold, Nynke A., Gruber, Oliver, Gudnason, Vilmundur, Håberg, Asta K., Haukvik, Unn K., Heinz, Andreas, Hibar, Derrek P., Hilal, Saima, Himali, Jayandra J., Ho, Beng-Choon, Hoehn, David F., Hoekstra, Pieter J., Hofer, Edith, Hoffmann, Wolfgang, Holmes, Avram J., Homuth, Georg, Hosten, Norbert, Ikram, M. Kamran, Ipser, Jonathan C., Jack Jr, Clifford R., Jahanshad, Neda, Jönsson, Erik G., Kahn, Rene S., Kanai, Ryota, Klein, Marieke, Knol, Maria J., Launer, Lenore J., Lawrie, Stephen M., Hellard, Stephanie Le, Lee, Phil H., Lemaître, Hervé, Li, Shuo, Liewald, David C. M., Lin, Honghuang, Longstreth, Jr, W. T., Lopez, Oscar L., Luciano, Michelle, Maillard, Pauline, Marquand, Andre F., Martin, Nicholas G., Martinot, Jean-Luc, Mather, Karen A., Mattay, Venkata S., McMahon, Katie L., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mirza-Schreiber, Nazanin, Milaneschi, Yuri, Mosley, Thomas H., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Maniega, Susana Muñoz, Nauck, Matthias, Nho, Kwangsik, Niessen, Wiro J., Nöthen, Markus M., Nyquist, Paul A., Oosterlaan, Jaap, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Psaty, Bruce M., Pütz, Benno, Reppermund, Simone, Rietschel, Marcella D., Risacher, Shannon L., Romanczuk-Seiferth, Nina, Romero-Garcia, Rafael, Roshchupkin, Gennady V., Rotter, Jerome I., Sachdev, Perminder S., Sämann, Philipp G., Saremi, Arvin, Sargurupremraj, Muralidharan, Saykin, Andrew J., Schmaal, Lianne, Schmidt, Helena, Schmidt, Reinhold, Schofield, Peter R., Scholz, Markus, Schumann, Gunter, Schwarz, Emanuel, Shen, Li, Shin, Jean, Sisodiya, Sanjay M., Smith, Albert V., Smoller, Jordan W., Soininen, Hilkka S., Steen, Vidar M., Stein, Dan J., Stein, Jason L., Thomopoulos, Sophia I., Toga, Arthur W., Tordesillas-Gutiérrez, Diana, Trollor, Julian N., Valdes-Hernandez, Maria C., van ′t Ent, Dennis, van Bokhoven, Hans, van der Meer, Dennis, van der Wee, Nic J. A., Vázquez-Bourgon, Javier, Veltman, Dick J., Vernooij, Meike W., Villringer, Arno, Vinke, Louis N., Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westlye, Lars T., Westman, Eric, White, Tonya, Witte, A. Veronica, Wolf, Christiane, Yang, Jingyun, Zwiers, Marcel P., Ikram, M. Arfan, Seshadri, Sudha, Thompson, Paul M., Satizabal, Claudia L., Medland, Sarah E., and Rentería, Miguel E.

Published
2024
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2. Genetic variants for head size share genes and pathways with cancer

Author

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 HK, Lamballais, Sander, Pawlak, Mikolaj A, Lewis, Cora E, Carrion-Castillo, Amaia, van Erp, Theo GM, Reinbold, Céline S, Shin, Jean, Scholz, Markus, Håberg, Asta K, Kämpe, Anders, Li, Gloria HY, Avinun, Reut, Atkins, Joshua R, Hsu, Fang-Chi, Amod, Alyssa R, Lam, Max, Tsuchida, Ami, Teunissen, Mariël WA, 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 AM, 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, Jahanshad, Neda, Jockwitz, Christiane, Kamatani, Yoichiro, Knodt, Annchen R, Li, Shuo, Lim, Keane, Longstreth, WT, Macciardi, Fabio, Consortium, The Cohorts for Heart and Aging Research in Genomic Epidemiology, 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 CM, 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, and Consortium, The Enhancing NeuroImaging Genetics through Meta-Analysis

Subjects
Biomedical and Clinical Sciences, Neurosciences, Biotechnology, Genetics, Cancer, Stem Cell Research, Human Genome, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Humans, Genome-Wide Association Study, Head, Neoplasms, Female, Male, Polymorphism, Single Nucleotide, Genetic Variation, Organ Size, Signal Transduction, Adult, Genetic Predisposition to Disease, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium, cancer, genetics, genome-wide association study, head circumference, head size, intracranial volume, meta-analysis, Biomedical and clinical sciences
Abstract

The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants investigation of clinical implications of the link between head size and cancer.

Published
2024

3. Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function

Author

Zhang, Yuankai, Liu, Xue, Wiggins, Kerri L, Kurniansyah, Nuzulul, Guo, Xiuqing, Rodrigue, Amanda L, Zhao, Wei, Yanek, Lisa R, Ratliff, Scott M, Pitsillides, Achilleas, Aguirre Patiño, Juan Sebastian, Sofer, Tamar, Arking, Dan E, Austin, Thomas R, Beiser, Alexa S, Blangero, John, Boerwinkle, Eric, Bressler, Jan, Curran, Joanne E, Hou, Lifang, Hughes, Timothy M, Kardia, Sharon LR, Launer, Lenore J, Levy, Daniel, Mosley, Thomas H, Nasrallah, Ilya M, Rich, Stephen S, Rotter, Jerome I, Seshadri, Sudha, Tarraf, Wassim, González, Kevin A, Ramachandran, Vasan, Yaffe, Kristine, Nyquist, Paul A, Psaty, Bruce M, DeCarli, Charles S, Smith, Jennifer A, Glahn, David C, González, Hector M, Bis, Joshua C, Fornage, Myriam, Heckbert, Susan R, Fitzpatrick, Annette L, Liu, Chunyu, Satizabal, Claudia L, Aguilera, Norma, Ament, Seth, Ammous, Farah, Arnett, Donna K, Becker, Diane, Bis, Joshua, Blue, Elizabeth, Breaux, Camille, Chaar, Dima, MHI, Clarkson-Townsend, Danielle, Cooper, Brigidann, Coresh, Josef, Correa, Adolfo, DeStefano, Anita, Ding, Jingzhong, Fardo, David, Fitzpatrick, Annette, French, Jennifer, Glahn, David, Gonzalez, Hector, Granot-Hershkovitz, Einat, Hanly, Patrick, Hayden, Kathleen, Heckbert, Susan, Heemann, Scott, Horvath, Steve, Hoth, Karin, Hughes, Timothy, Jaiswal, Sidd, Jian, Xueqiu, Katsumata, Yuriko, Kho, Minjung, Kooperberg, Charles, Launer, Lenore, Lin, Honghuang, Litkowski, Elizabeth, Longstreth, Will, Martin, Alexandra, Mayeux, Richard, Mikulla, Julie, Miller, Amy, Misra, Biswapriya, Mosley, Thomas, Nyquist, Paul, O'Connell, Jeff, Olivier, Michael, Peloso, Gina, Perry, James, Psaty, Bruce, Purcell, Shaun, and Raffield, Laura

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Behavioral and Social Science, Acquired Cognitive Impairment, Clinical Research, Alzheimer's Disease, Dementia, Precision Medicine, Biomedical Imaging, Aging, Genetics, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Mental health, Neurological, Good Health and Well Being, Middle Aged, Humans, Female, Aged, Male, DNA, Mitochondrial, DNA Copy Number Variations, Prospective Studies, Cross-Sectional Studies, Alzheimer Disease, Magnetic Resonance Imaging, Cognition, Brain, NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

Background and objectivesPrevious studies suggest that lower mitochondrial DNA (mtDNA) copy number (CN) is associated with neurodegenerative diseases. However, whether mtDNA CN in whole blood is related to endophenotypes of Alzheimer disease (AD) and AD-related dementia (AD/ADRD) needs further investigation. We assessed the association of mtDNA CN with cognitive function and MRI measures in community-based samples of middle-aged to older adults.MethodsWe included dementia-free participants from 9 diverse community-based cohorts with whole-genome sequencing in the Trans-Omics for Precision Medicine (TOPMed) program. Circulating mtDNA CN was estimated as twice the ratio of the average coverage of mtDNA to nuclear DNA. Brain MRI markers included total brain, hippocampal, and white matter hyperintensity volumes. General cognitive function was derived from distinct cognitive domains. We performed cohort-specific association analyses of mtDNA CN with AD/ADRD endophenotypes assessed within ±5 years (i.e., cross-sectional analyses) or 5-20 years after blood draw (i.e., prospective analyses) adjusting for potential confounders. We further explored associations stratified by sex and age (

Published
2023

4. Infection Management in the Neurocritical Care Setting

Author

Chang, Henry, Nyquist, Paul, Coccolini, Federico, Series Editor, Coimbra, Raul, Series Editor, Kirkpatrick, Andrew W., Series Editor, Di Saverio, Salomone, Series Editor, Ansaloni, Luca, Editorial Board Member, Balogh, Zsolt, Editorial Board Member, Biffl, Walt, Editorial Board Member, Catena, Fausto, Editorial Board Member, Davis, Kimberly, Editorial Board Member, Ferrada, Paula, Editorial Board Member, Fraga, Gustavo, Editorial Board Member, Ivatury, Rao, Editorial Board Member, Kluger, Yoram, Editorial Board Member, Leppaniemi, Ari, Editorial Board Member, Maier, Ron, Editorial Board Member, Moore, Ernest E., Editorial Board Member, Napolitano, Lena, Editorial Board Member, Peitzman, Andrew, Editorial Board Member, Reilly, Patrick, Editorial Board Member, Rizoli, Sandro, Editorial Board Member, Sakakushev, Boris E., Editorial Board Member, Sartelli, Massimo, Editorial Board Member, Scalea, Thomas, Editorial Board Member, Spain, David, Editorial Board Member, Stahel, Philip, Editorial Board Member, Sugrue, Michael, Editorial Board Member, Velmahos, George, Editorial Board Member, Weber, Dieter, Editorial Board Member, Brogi, Etrusca, editor, Ley, Eric J., editor, and Valadka, Alex, editor

Published
2024
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6. A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis

Author

Gaastra, Ben, Alexander, Sheila, Bakker, Mark K., Bhagat, Hemant, Bijlenga, Philippe, Blackburn, Spiros L., Collins, Malie K., Doré, Sylvain, Griessenauer, Christoph J., Hendrix, Philipp, Hong, Eun Pyo, Hostettler, Isabel C., Houlden, Henry, IIhara, Koji, Jeon, Jin Pyeong, Kim, Bong Jun, Li, Jiang, Morel, Sandrine, Nyquist, Paul, Ren, Dianxu, Ruigrok, Ynte M., Werring, David, Tapper, Will, Galea, Ian, and Bulters, Diederik

Published
2023
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7. International stroke genetics consortium recommendations for studies of genetics of stroke outcome and recovery

Author

Lindgren, Arne G, Braun, Robynne G, Majersik, Jennifer Juhl, Clatworthy, Philip, Mainali, Shraddha, Derdeyn, Colin P, Maguire, Jane, Jern, Christina, Rosand, Jonathan, Cole, John W, Lee, Jin-Moo, Khatri, Pooja, Nyquist, Paul, Debette, Stéphanie, Wei, Loo Keat, Rundek, Tatjana, Leifer, Dana, Thijs, Vincent, Lemmens, Robin, Heitsch, Laura, Prasad, Kameshwar, Conde, Jordi Jimenez, Dichgans, Martin, Rost, Natalia S, Cramer, Steven C, Bernhardt, Julie, Worrall, Bradford B, Fernandez-Cadenas, Israel, and Consortium, International Stroke Genetics

Subjects
Health Services and Systems, Health Sciences, Rehabilitation, Brain Disorders, Stroke, Genetics, Aging, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Brain Injuries, Data Collection, Humans, Phenotype, Recovery of Function, Stroke Rehabilitation, Data collection, genetics, ischemic stroke, outcome, phenotype, recovery, standardization, International Stroke Genetics Consortium, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences, Allied health and rehabilitation science
Abstract

Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke recovery in humans and identify intervention targets. Large sample sizes are needed to detect commonly occurring genetic variations related to stroke brain injury and recovery. However, this usually requires combining data from multiple studies where consistent terminology, methodology, and data collection timelines are essential. Our group of expert stroke and rehabilitation clinicians and researchers with knowledge in genetics of stroke recovery here present recommendations for harmonizing phenotype data with focus on measures suitable for multicenter genetic studies of ischemic stroke brain injury and recovery. Our recommendations have been endorsed by the International Stroke Genetics Consortium.

Published
2022

8. Proceedings of the First Curing Coma Campaign NIH Symposium: Challenging the Future of Research for Coma and Disorders of Consciousness.

Author

Claassen, Jan, Akbari, Yama, Alexander, Sheila, Bader, Mary Kay, Bell, Kathleen, Bleck, Thomas P, Boly, Melanie, Brown, Jeremy, Chou, Sherry H-Y, Diringer, Michael N, Edlow, Brian L, Foreman, Brandon, Giacino, Joseph T, Gosseries, Olivia, Green, Theresa, Greer, David M, Hanley, Daniel F, Hartings, Jed A, Helbok, Raimund, Hemphill, J Claude, Hinson, HE, Hirsch, Karen, Human, Theresa, James, Michael L, Ko, Nerissa, Kondziella, Daniel, Livesay, Sarah, Madden, Lori K, Mainali, Shraddha, Mayer, Stephan A, McCredie, Victoria, McNett, Molly M, Meyfroidt, Geert, Monti, Martin M, Muehlschlegel, Susanne, Murthy, Santosh, Nyquist, Paul, Olson, DaiWai M, Provencio, J Javier, Rosenthal, Eric, Sampaio Silva, Gisele, Sarasso, Simone, Schiff, Nicholas D, Sharshar, Tarek, Shutter, Lori, Stevens, Robert D, Vespa, Paul, Videtta, Walter, Wagner, Amy, Ziai, Wendy, Whyte, John, Zink, Elizabeth, Suarez, Jose I, and Curing Coma Campaign

Subjects
Curing Coma Campaign, Biomarkers, Coma, Consciousness, Electrophysiology, Magnetic resonance imaging, Clinical Sciences, Neurosciences, Neurology & Neurosurgery
Abstract

Coma and disorders of consciousness (DoC) are highly prevalent and constitute a burden for patients, families, and society worldwide. As part of the Curing Coma Campaign, the Neurocritical Care Society partnered with the National Institutes of Health to organize a symposium bringing together experts from all over the world to develop research targets for DoC. The conference was structured along six domains: (1) defining endotype/phenotypes, (2) biomarkers, (3) proof-of-concept clinical trials, (4) neuroprognostication, (5) long-term recovery, and (6) large datasets. This proceedings paper presents actionable research targets based on the presentations and discussions that occurred at the conference. We summarize the background, main research gaps, overall goals, the panel discussion of the approach, limitations and challenges, and deliverables that were identified.

Published
2021

9. Association of low-frequency and rare coding variants with information processing speed

Author

Bressler, Jan, Davies, Gail, Smith, Albert V, Saba, Yasaman, Bis, Joshua C, Jian, Xueqiu, Hayward, Caroline, Yanek, Lisa, Smith, Jennifer A, Mirza, Saira S, Wang, Ruiqi, Adams, Hieab HH, Becker, Diane, Boerwinkle, Eric, Campbell, Archie, Cox, Simon R, Eiriksdottir, Gudny, Fawns-Ritchie, Chloe, Gottesman, Rebecca F, Grove, Megan L, Guo, Xiuqing, Hofer, Edith, Kardia, Sharon LR, Knol, Maria J, Koini, Marisa, Lopez, Oscar L, Marioni, Riccardo E, Nyquist, Paul, Pattie, Alison, Polasek, Ozren, Porteous, David J, Rudan, Igor, Satizabal, Claudia L, Schmidt, Helena, Schmidt, Reinhold, Sidney, Stephen, Simino, Jeannette, Smith, Blair H, Turner, Stephen T, van der Lee, Sven J, Ware, Erin B, Whitmer, Rachel A, Yaffe, Kristine, Yang, Qiong, Zhao, Wei, Gudnason, Vilmundur, Launer, Lenore J, Fitzpatrick, Annette L, Psaty, Bruce M, Fornage, Myriam, Arfan Ikram, M, van Duijn, Cornelia M, Seshadri, Sudha, Mosley, Thomas H, and Deary, Ian J

Subjects
Genetics, Brain Disorders, Aging, Human Genome, Adult, Cognition, Genome-Wide Association Study, Geroscience, Humans, Polymorphism, Single Nucleotide, Ubiquitin-Protein Ligases, Clinical Sciences, Public Health and Health Services, Psychology
Abstract

Measures of information processing speed vary between individuals and decline with age. Studies of aging twins suggest heritability may be as high as 67%. The Illumina HumanExome Bead Chip genotyping array was used to examine the association of rare coding variants with performance on the Digit-Symbol Substitution Test (DSST) in community-dwelling adults participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. DSST scores were available for 30,576 individuals of European ancestry from nine cohorts and for 5758 individuals of African ancestry from four cohorts who were older than 45 years and free of dementia and clinical stroke. Linear regression models adjusted for age and gender were used for analysis of single genetic variants, and the T5, T1, and T01 burden tests that aggregate the number of rare alleles by gene were also applied. Secondary analyses included further adjustment for education. Meta-analyses to combine cohort-specific results were carried out separately for each ancestry group. Variants in RNF19A reached the threshold for statistical significance (p = 2.01 × 10-6) using the T01 test in individuals of European descent. RNF19A belongs to the class of E3 ubiquitin ligases that confer substrate specificity when proteins are ubiquitinated and targeted for degradation through the 26S proteasome. Variants in SLC22A7 and OR51A7 were suggestively associated with DSST scores after adjustment for education for African-American participants and in the European cohorts, respectively. Further functional characterization of its substrates will be required to confirm the role of RNF19A in cognitive function.

Published
2021

10. Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities

Author

Armstrong, Nicola J, Mather, Karen A, Sargurupremraj, Muralidharan, Knol, Maria J, Malik, Rainer, Satizabal, Claudia L, Yanek, Lisa R, Wen, Wei, Gudnason, Vilmundur G, Dueker, Nicole D, Elliott, Lloyd T, Hofer, Edith, Bis, Joshua, Jahanshad, Neda, Li, Shuo, Logue, Mark A, Luciano, Michelle, Scholz, Markus, Smith, Albert V, Trompet, Stella, Vojinovic, Dina, Xia, Rui, Alfaro-Almagro, Fidel, Ames, David, Amin, Najaf, Amouyel, Philippe, Beiser, Alexa S, Brodaty, Henry, Deary, Ian J, Fennema-Notestine, Christine, Gampawar, Piyush G, Gottesman, Rebecca, Griffanti, Ludovica, Jack, Clifford R, Jenkinson, Mark, Jiang, Jiyang, Kral, Brian G, Kwok, John B, Lampe, Leonie, C.M. Liewald, David, Maillard, Pauline, Marchini, Jonathan, Bastin, Mark E, Mazoyer, Bernard, Pirpamer, Lukas, Rafael Romero, José, Roshchupkin, Gennady V, Schofield, Peter R, Schroeter, Matthias L, Stott, David J, Thalamuthu, Anbupalam, Trollor, Julian, Tzourio, Christophe, van der Grond, Jeroen, Vernooij, Meike W, Witte, Veronica A, Wright, Margaret J, Yang, Qiong, Morris, Zoe, Siggurdsson, Siggi, Psaty, Bruce, Villringer, Arno, Schmidt, Helena, Haberg, Asta K, van Duijn, Cornelia M, Jukema, J Wouter, Dichgans, Martin, Sacco, Ralph L, Wright, Clinton B, Kremen, William S, Becker, Lewis C, Thompson, Paul M, Mosley, Thomas H, Wardlaw, Joanna M, Ikram, M Arfan, Adams, Hieab HH, Seshadri, Sudha, Sachdev, Perminder S, Smith, Stephen M, Launer, Lenore, Longstreth, William, DeCarli, Charles, Schmidt, Reinhold, Fornage, Myriam, Debette, Stephanie, and Nyquist, Paul A

Subjects
Epidemiology, Health Sciences, Brain Disorders, Biotechnology, Neurosciences, Cerebrovascular, Stroke, Neurodegenerative, Dementia, Vascular Cognitive Impairment/Dementia, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Aging, Genetics, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aged, Brain, Cerebral Small Vessel Diseases, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Middle Aged, White Matter, brain, genome-wide association study, neuroimaging, risk factors, white matter, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences, Allied health and rehabilitation science
Abstract

Background and purposePeriventricular white matter hyperintensities (WMH; PVWMH) and deep WMH (DWMH) are regional classifications of WMH and reflect proposed differences in cause. In the first study, to date, we undertook genome-wide association analyses of DWMH and PVWMH to show that these phenotypes have different genetic underpinnings.MethodsParticipants were aged 45 years and older, free of stroke and dementia. We conducted genome-wide association analyses of PVWMH and DWMH in 26,654 participants from CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology), ENIGMA (Enhancing Neuro-Imaging Genetics Through Meta-Analysis), and the UKB (UK Biobank). Regional correlations were investigated using the genome-wide association analyses -pairwise method. Cross-trait genetic correlations between PVWMH, DWMH, stroke, and dementia were estimated using LDSC.ResultsIn the discovery and replication analysis, for PVWMH only, we found associations on chromosomes 2 (NBEAL), 10q23.1 (TSPAN14/FAM231A), and 10q24.33 (SH3PXD2A). In the much larger combined meta-analysis of all cohorts, we identified ten significant regions for PVWMH: chromosomes 2 (3 regions), 6, 7, 10 (2 regions), 13, 16, and 17q23.1. New loci of interest include 7q36.1 (NOS3) and 16q24.2. In both the discovery/replication and combined analysis, we found genome-wide significant associations for the 17q25.1 locus for both DWMH and PVWMH. Using gene-based association analysis, 19 genes across all regions were identified for PVWMH only, including the new genes: CALCRL (2q32.1), KLHL24 (3q27.1), VCAN (5q27.1), and POLR2F (22q13.1). Thirteen genes in the 17q25.1 locus were significant for both phenotypes. More extensive genetic correlations were observed for PVWMH with small vessel ischemic stroke. There were no associations with dementia for either phenotype.ConclusionsOur study confirms these phenotypes have distinct and also shared genetic architectures. Genetic analyses indicated PVWMH was more associated with ischemic stroke whilst DWMH loci were implicated in vascular, astrocyte, and neuronal function. Our study confirms these phenotypes are distinct neuroimaging classifications and identifies new candidate genes associated with PVWMH only.

Published
2020

11. Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol

Author

Gaastra, Ben, Alexander, Sheila, Bakker, Mark K., Bhagat, Hemant, Bijlenga, Philippe, Blackburn, Spiros, Collins, Malie K., Doré, Sylvain, Griessenauer, Christoph, Hendrix, Philipp, Hong, Eun Pyo, Hostettler, Isabel C., Houlden, Henry, IIhara, Koji, Jeon, Jin Pyeong, Kim, Bong Jun, Kumar, Munish, Morel, Sandrine, Nyquist, Paul, Ren, Dianxu, Ruigrok, Ynte M., Werring, David, Galea, Ian, Bulters, Diederik, and Tapper, Will

Published
2022
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12. Haptoglobin Treatment for Aneurysmal Subarachnoid Hemorrhage: Review and Expert Consensus on Clinical Translation

Author

Galea, Ian, Bandyopadhyay, Soham, Bulters, Diederik, Humar, Rok, Hugelshofer, Michael, Schaer, Dominik J., Abdulazim, Amr, Alalade, Andrew F., Alexander, Sheila A., Amaro, Sergi, Amin-Hanjani, Sepideh, Andersen, Christopher R., Anderson, Craig, Anstey, Matthew H., Balla, József, Bankole, Nourou Dine Adeniran, Bellapart, Judith, Bhagat, Hemant, Blackburn, Spiros L., Brechmann, Markus, Buehler, Paul W., Burkhardt, Jan-Karl, Chen, Yujie, Cohen, Jeremy, Cooper, P. David, Coulthard, Liam G., Cuadrado-Godia, Elisa, Dalton, Joan, Delaney, Anthony, Doré, Sylvain, Downer, Jonathan, Dye, Justin, Fernandez-Perez, Isabel, Flower, Oliver, Fülesdi, Béla, Gaastra, Ben, Gaberel, Thomas, Galea, James, Gankpe, Gbetoho Fortuné, Garland, Patrick, Gentinetta, Thomas, Gram, Magnus, Graversen, Jonas Heilskov, Grover, Patrick J., Guisado-Alonso, Daniel, Hasan, David, Helmy, Adel, Höhne, Julius, Charlotte Hostettler, Isabel, Hrishi, Ajay Prasad, Iihara, Koji, Irwin, David C., Jangra, Kiran, Jiménez-O’Shanahan, Aruma, Keep, Richard F., Koch, Matthew, Korja, Miikka, Kumar, Munish, Llull, Laura, Loan, James JM, Lopez-Gonzalez, Miguel Ángel, Loch Macdonald, R., Mahajan, Shalvi, Martí-Fàbregas, Joan, Medina-Suárez, Jose, Moestrup, Soren, More, John, Morgan, Eghosa, Muthuchellappan, Radhakrishnan, Nyquist, Paul, Sosa Pérez, Coralia, Pillai, Promod, Plesnila, Nikolaus, Javier Provencio, Jose, Raith, Eamon, Ramos-Pachón, Anna, Raymond, Scott B., Regli, Luca, Ruigrok, Ynte Marije, Saharan, Poonam, Samaniego, Edgar A., Schubert, Gerrit Alexander, Seppelt, Ian, Sriganesh, Kamath, Suarez, Jose I., Taylor, Jonathon, Terpolilli, Nicole A., Testai, Fernando D., Tolosano, Emanuela, Toma, Ahmed K., On Tsang, Anderson Chun, Udy, Andrew A., Vallelian, Florence, Vargas-Caballero, Mariana, Vercellotti, Gregory M, Vergouwen, Mervyn D.I., Waak, Michaela, Warming, Hannah, Whitfield, Peter C., Kwok-chu Wong, George, Wright, Jason, and Zuercher, Adrian W.

Published
2023
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13. A genome-wide association study identifies genetic loci associated with specific lobar brain volumes

Author

van der Lee, Sven J, Knol, Maria J, Chauhan, Ganesh, Satizabal, Claudia L, Smith, Albert Vernon, Hofer, Edith, Bis, Joshua C, Hibar, Derrek P, Hilal, Saima, van den Akker, Erik B, Arfanakis, Konstantinos, Bernard, Manon, Yanek, Lisa R, Amin, Najaf, Crivello, Fabrice, Cheung, Josh W, Harris, Tamara B, Saba, Yasaman, Lopez, Oscar L, Li, Shuo, van der Grond, Jeroen, Yu, Lei, Paus, Tomas, Roshchupkin, Gennady V, Amouyel, Philippe, Jahanshad, Neda, Taylor, Kent D, Yang, Qiong, Mathias, Rasika A, Boehringer, Stefan, Mazoyer, Bernard, Rice, Ken, Cheng, Ching Yu, Maillard, Pauline, van Heemst, Diana, Wong, Tien Yin, Niessen, Wiro J, Beiser, Alexa S, Beekman, Marian, Zhao, Wanting, Nyquist, Paul A, Chen, Christopher, Launer, Lenore J, Psaty, Bruce M, Ikram, M Kamran, Vernooij, Meike W, Schmidt, Helena, Pausova, Zdenka, Becker, Diane M, De Jager, Philip L, Thompson, Paul M, van Duijn, Cornelia M, Bennett, David A, Slagboom, P Eline, Schmidt, Reinhold, Longstreth, WT, Ikram, M Arfan, Seshadri, Sudha, Debette, Stéphanie, Gudnason, Vilmundur, Adams, Hieab HH, and DeCarli, Charles

Subjects
Biological Sciences, Genetics, Neurosciences, Mental Health, Brain Disorders, Human Genome, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Frontal Lobe, Gene Expression Regulation, Developmental, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Genotype, Heredity, Humans, Magnetic Resonance Imaging, Occipital Lobe, Organ Size, Parietal Lobe, Phenotype, Temporal Lobe, United Kingdom, Biomarkers, Genome-wide association studies, Neurology, Biological sciences, Biomedical and clinical sciences
Abstract

Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes.

Published
2019

17. Implementation of a Virtual Interprofessional ICU Learning Collaborative: Successes, Challenges, and Initial Reactions From the Structured Team-Based Optimal Patient-Centered Care for Virus COVID-19 Collaborators

Author

Zec, Simon, Zorko Garbajs, Nika, Dong, Yue, Gajic, Ognjen, Kordik, Christina, Harmon, Lori, Bogojevic, Marija, Singh, Romil, Sun, Yuqiang, Bansal, Vikas, Vu, Linh, Cawcutt, Kelly, Litell, John M., Redmond, Sarah, Fitzpatrick, Eleanor, Kooda, Kirstin J., Biehl, Michelle, Dangayach, Neha S., Kaul, Viren, Chae, June M., Leppin, Aaron, Siuba, Mathew, Kashyap, Rahul, Walkey, Allan J., Niven, Alexander S., Martinez, Anthony, Meadows, Dean, Stinnett, Helen, Allison, Michael, Adeyemi, Olubukola, Herbert, Terry, Weinhouse, Gerald L., Patil, Namrata, Hacobian, Gaspar, Rangelov, Kamen, Parker, Jillian, Smith, Michael P., Smith, Rachel, Deery, Eliza, Harper, Andrea, Davis, Emily, Arteaga, Grace M., Fleegel, Jennifer L., Duncan, Julie M., Graner, Kevin K., Schultz, Tammy J., Giri, Abhishek, Gill, Ashley, Mielke, Catherine L., Sanghavi, Devang, Clark, Jonathan K., Shimp, Julie, Marshall, Lisa, Spiros, Michael, Kaur, Nirmaljot, Kiley, Sean P., Yarrarapu, Siva Naga, Keister, Teresa, Stroope, Gage, Stark, Jackie, Poehler, Jessica, Pablo, Juan, Garces, Domecq, Jain, Nitesh Kumar, Khan, Syed Anjum, Koritala, Thoyaja, La Nou, Abigail, Hall, Christina, Christensen, Cindy, Holbrook, Kirsten, Toufar, Sara, Normand, Sarah, Spitzner, Amy, Quinn, Carissa, Xia, Christina, Behrns, Holly D., Barreto, Erin, Elmer, Jennifer, Chalmers, Sarah, Cooper, Macy, Harthan, Aaron, Martinez, Edmundo A., Bandy, Jennifer A., Sanford, John, Guiliani, Jackie A., Kupferschmid, Megan, Pariyadath, Anand, Vitielliss, Brandy, Temas, Daniel, Heavner, Smith F., Frary, Amanda, Akhter, Murtaza, Rahman, Rania, Mulrow, Mary, Cooper, Tracy, Litell, John M., Chae, June Mee, Cawcutt, Kelly, Kooda, Kirstin J., Biehl, Michelle, Dangayach, Neha S., Redmond, Sarah, Kaul, Viren, Siuba, Matthew, Holley, Aaron B., Kon, Alexander A., Avadhani, Amita, Dzierba, Amy L., Kalil, Andre C., Cawcutt, Kelly, DePriest, Ashley D., Peters, Bradley, Pun, Brenda T., Bennett, Courtney E., Kriner, Eric, DeMartino, Erin S., Strong, Erin, Netzer, Giora, Martin, Greg S., Zimmerman, Jerry J., Taylor, Julia, Korzick, Karen A., Fischkoff, Katherine, Kaplan, Lewis J., Ostermann, Marlies, Gaeta, Mary Susan, Marshall, Mary Faith, Ahmed, Nahreen, Nyquist, Paul Alan, Nawathe, Pooja A., John, Preeti R., and Syed, Uzma

Published
2023
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19. Correction: Association of low-frequency and rare coding variants with information processing speed

Author

Bressler, Jan, Davies, Gail, Smith, Albert V., Saba, Yasaman, Bis, Joshua C., Jian, Xueqiu, Hayward, Caroline, Yanek, Lisa, Smith, Jennifer A., Mirza, Saira S., Wang, Ruiqi, Adams, Hieab H. H., Becker, Diane, Boerwinkle, Eric, Campbell, Archie, Cox, Simon R., Eiriksdottir, Gudny, Fawns-Ritchie, Chloe, Gottesman, Rebecca F., Grove, Megan L., Guo, Xiuqing, Hofer, Edith, Kardia, Sharon L. R., Knol, Maria J., Koini, Marisa, Lopez, Oscar L., Marioni, Riccardo E., Nyquist, Paul, Pattie, Alison, Polasek, Ozren, Porteous, David J., Rudan, Igor, Satizabal, Claudia L., Schmidt, Helena, Schmidt, Reinhold, Sidney, Stephen, Simino, Jeannette, Smith, Blair H., Turner, Stephen T., van der Lee, Sven J., Ware, Erin B., Whitmer, Rachel A., Yaffe, Kristine, Yang, Qiong, Zhao, Wei, Gudnason, Vilmundur, Launer, Lenore J., Fitzpatrick, Annette L., Psaty, Bruce M., Fornage, Myriam, Arfan Ikram, M., van Duijn, Cornelia M., Seshadri, Sudha, Mosley, Thomas H., and Deary, Ian J.

Published
2022
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21. Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume.

Author

Vojinovic, Dina, Adams, Hieab H, Jian, Xueqiu, Yang, Qiong, Smith, Albert Vernon, Bis, Joshua C, Teumer, Alexander, Scholz, Markus, Armstrong, Nicola J, Hofer, Edith, Saba, Yasaman, Luciano, Michelle, Bernard, Manon, Trompet, Stella, Yang, Jingyun, Gillespie, Nathan A, van der Lee, Sven J, Neumann, Alexander, Ahmad, Shahzad, Andreassen, Ole A, Ames, David, Amin, Najaf, Arfanakis, Konstantinos, Bastin, Mark E, Becker, Diane M, Beiser, Alexa S, Beyer, Frauke, Brodaty, Henry, Bryan, R Nick, Bülow, Robin, Dale, Anders M, De Jager, Philip L, Deary, Ian J, DeCarli, Charles, Fleischman, Debra A, Gottesman, Rebecca F, van der Grond, Jeroen, Gudnason, Vilmundur, Harris, Tamara B, Homuth, Georg, Knopman, David S, Kwok, John B, Lewis, Cora E, Li, Shuo, Loeffler, Markus, Lopez, Oscar L, Maillard, Pauline, El Marroun, Hanan, Mather, Karen A, Mosley, Thomas H, Muetzel, Ryan L, Nauck, Matthias, Nyquist, Paul A, Panizzon, Matthew S, Pausova, Zdenka, Psaty, Bruce M, Rice, Ken, Rotter, Jerome I, Royle, Natalie, Satizabal, Claudia L, Schmidt, Reinhold, Schofield, Peter R, Schreiner, Pamela J, Sidney, Stephen, Stott, David J, Thalamuthu, Anbupalam, Uitterlinden, Andre G, Valdés Hernández, Maria C, Vernooij, Meike W, Wen, Wei, White, Tonya, Witte, A Veronica, Wittfeld, Katharina, Wright, Margaret J, Yanek, Lisa R, Tiemeier, Henning, Kremen, William S, Bennett, David A, Jukema, J Wouter, Paus, Tomas, Wardlaw, Joanna M, Schmidt, Helena, Sachdev, Perminder S, Villringer, Arno, Grabe, Hans Jörgen, Longstreth, WT, van Duijn, Cornelia M, Launer, Lenore J, Seshadri, Sudha, Ikram, M Arfan, and Fornage, Myriam

Subjects
Lateral Ventricles, Humans, Organ Size, Genome, Human, Aged, Middle Aged, Genome-Wide Association Study, Human Genome, Aging, Genetics, 2.1 Biological and endogenous factors, Neurological
Abstract

The volume of the lateral ventricles (LV) increases with age and their abnormal enlargement is a key feature of several neurological and psychiatric diseases. Although lateral ventricular volume is heritable, a comprehensive investigation of its genetic determinants is lacking. In this meta-analysis of genome-wide association studies of 23,533 healthy middle-aged to elderly individuals from 26 population-based cohorts, we identify 7 genetic loci associated with LV volume. These loci map to chromosomes 3q28, 7p22.3, 10p12.31, 11q23.1, 12q23.3, 16q24.2, and 22q13.1 and implicate pathways related to tau pathology, S1P signaling, and cytoskeleton organization. We also report a significant genetic overlap between the thalamus and LV volumes (ρgenetic = -0.59, p-value = 3.14 × 10-6), suggesting that these brain structures may share a common biology. These genetic associations of LV volume provide insights into brain morphology.

Published
2018

22. Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging

Author

Jian, Xueqiu, Satizabal, Claudia L, Smith, Albert V, Wittfeld, Katharina, Bis, Joshua C, Smith, Jennifer A, Hsu, Fang-Chi, Nho, Kwangsik, Hofer, Edith, Hagenaars, Saskia P, Nyquist, Paul A, Mishra, Aniket, Adams, Hieab HH, Li, Shuo, Teumer, Alexander, Zhao, Wei, Freedman, Barry I, Saba, Yasaman, Yanek, Lisa R, Chauhan, Ganesh, van Buchem, Mark A, Cushman, Mary, Royle, Natalie A, Bryan, R Nick, Niessen, Wiro J, Windham, Beverly G, DeStefano, Anita L, Habes, Mohamad, Heckbert, Susan R, Palmer, Nicholette D, Lewis, Cora E, Eiriksdottir, Gudny, Maillard, Pauline, Mathias, Rasika A, Homuth, Georg, Valdés-Hernández, Maria del C, Divers, Jasmin, Beiser, Alexa S, Langner, Sönke, Rice, Kenneth M, Bastin, Mark E, Yang, Qiong, Maldjian, Joseph A, Starr, John M, Sidney, Stephen, Risacher, Shannon L, Uitterlinden, André G, Gudnason, Vilmundur G, Nauck, Matthias, Rotter, Jerome I, Schreiner, Pamela J, Boerwinkle, Eric, van Duijn, Cornelia M, Mazoyer, Bernard, von Sarnowski, Bettina, Gottesman, Rebecca F, Levy, Daniel, Sigurdsson, Sigurdur, Vernooij, Meike W, Turner, Stephen T, Schmidt, Reinhold, Wardlaw, Joanna M, Psaty, Bruce M, Mosley, Thomas H, DeCarli, Charles S, Saykin, Andrew J, Bowden, Donald W, Becker, Diane M, Deary, Ian J, Schmidt, Helena, Kardia, Sharon LR, Ikram, M Arfan, Debette, Stéphanie, Grabe, Hans J, Longstreth, WT, Seshadri, Sudha, Launer, Lenore J, and Fornage, Myriam

Subjects
Epidemiology, Health Sciences, Alzheimer's Disease Related Dementias (ADRD), Dementia, Human Genome, Cerebrovascular, Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Stroke, Brain Disorders, Acquired Cognitive Impairment, Neurodegenerative, Aging, Minority Health, Genetics, Neurosciences, Biotechnology, 2.1 Biological and endogenous factors, Neurological, Brain, Cohort Studies, Exome, Genetic Variation, Humans, Magnetic Resonance Imaging, Mitochondrial Proteins, White Matter, cerebral small vessel disease, exome, magnetic resonance imaging, meta-analysis, white matter, neuroCHARGE Working Group, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences, Allied health and rehabilitation science
Abstract

Background and Purpose- White matter hyperintensities (WMH) on brain magnetic resonance imaging are typical signs of cerebral small vessel disease and may indicate various preclinical, age-related neurological disorders, such as stroke. Though WMH are highly heritable, known common variants explain a small proportion of the WMH variance. The contribution of low-frequency/rare coding variants to WMH burden has not been explored. Methods- In the discovery sample we recruited 20 719 stroke/dementia-free adults from 13 population-based cohort studies within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, among which 17 790 were of European ancestry and 2929 of African ancestry. We genotyped these participants at ≈250 000 mostly exonic variants with Illumina HumanExome BeadChip arrays. We performed ethnicity-specific linear regression on rank-normalized WMH in each study separately, which were then combined in meta-analyses to test for association with single variants and genes aggregating the effects of putatively functional low-frequency/rare variants. We then sought replication of the top findings in 1192 adults (European ancestry) with whole exome/genome sequencing data from 2 independent studies. Results- At 17q25, we confirmed the association of multiple common variants in TRIM65, FBF1, and ACOX1 ( P

Published
2018

23. Whole genome sequence analyses of brain imaging measures in the Framingham Study

Author

Sarnowski, Chloé, Satizabal, Claudia L, DeCarli, Charles, Pitsillides, Achilleas N, Cupples, L Adrienne, Vasan, Ramachandran S, Wilson, James G, Bis, Joshua C, Fornage, Myriam, Beiser, Alexa S, DeStefano, Anita L, Dupuis, Josée, Seshadri, Sudha, Arnett, Donna K, Becker, Diane, Bis, Joshua, Boerwinkle, Eric, Bowers, Michael, Bressler, Jan, Correa, Adolfo, DeStefano, Anita, Ding, Jingzhong ding, Fardo, David, Lugo, Alex Garcia, Glahn, David, Gonzalez, Hector, Hayden, Kathleen, Heckbert, Susan, Hoth, Karin, Hughes, Timothy, Jaquish, Cashell, Jian, Xueqiu, Knowles, Emma, Launer, Lenore, Lin, Honghuang, Longstreth, Will, Mayeux, Richard, Misra, Biswapriya, Mosley, Thomas, Nyquist, Paul, Olivier, Michael, Peprah, Emmanuel, Psaty, Bruce, Purcell, Shaun, Rotter, Jerome, Satizabal, Claudia, Schellenberg, Gerard, Simino, Jeannette, Smith, Jennifer, Smoller, Sylvia, Snively, Beverly, Sokolow, Sophie, Wehr, Kate, Yanek, Lisa, Yang, Qiong, Namiko, Abe, Goncalo, Abecasis, Christine, Albert, Nicholette (Nichole) Palmer, Allred, Laura, Almasy, Alvaro, Alonso, Seth, Ament, Peter, Anderson, Pramod, Anugu, Deborah, Applebaum-Bowden, Dan, Arking, Donna K, Arnett, Allison, Ashley-Koch, Stella, Aslibekyan, Tim, Assimes, Paul, Auer, Dimitrios, Avramopoulos, John, Barnard, Kathleen, Barnes, Graham, Barr R, Emily, Barron-Casella, Terri, Beaty, Diane, Becker, Lewis, Becker, Rebecca, Beer, Ferdouse, Begum, Amber, Beitelshees, Emelia, Benjamin, Marcos, Bezerra, Larry, Bielak, Joshua, Bis, Thomas, Blackwell, John, Blangero, Eric, Boerwinkle, Ingrid, Borecki, Russell, Bowler, Jennifer, Brody, Ulrich, Broeckel, Jai, Broome, Karen, Bunting, Esteban, Burchard, and Jonathan, Cardwell

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Biotechnology, Human Genome, Aging, Brain Disorders, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Good Health and Well Being, Aged, Brain, Female, Genetic Variation, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Male, Massachusetts, Middle Aged, Organ Size, Phenotype, Prospective Studies, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Neurocognitive Working Group, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveWe sought to identify rare variants influencing brain imaging phenotypes in the Framingham Heart Study by performing whole genome sequence association analyses within the Trans-Omics for Precision Medicine Program.MethodsWe performed association analyses of cerebral and hippocampal volumes and white matter hyperintensity (WMH) in up to 2,180 individuals by testing the association of rank-normalized residuals from mixed-effect linear regression models adjusted for sex, age, and total intracranial volume with individual variants while accounting for familial relatedness. We conducted gene-based tests for rare variants using (1) a sliding-window approach, (2) a selection of functional exonic variants, or (3) all variants.ResultsWe detected new loci in 1p21 for cerebral volume (minor allele frequency [MAF] 0.005, p = 10-8) and in 16q23 for hippocampal volume (MAF 0.05, p = 2.7 × 10-8). Previously identified associations in 12q24 for hippocampal volume (rs7294919, p = 4.4 × 10-4) and in 17q25 for WMH (rs7214628, p = 2.0 × 10-3) were confirmed. Gene-based tests detected associations (p ≤ 2.3 × 10-6) in new loci for cerebral (5q13, 8p12, 9q31, 13q12-q13, 15q24, 17q12, 19q13) and hippocampal volumes (2p12) and WMH (3q13, 4p15) including Alzheimer disease- (UNC5D) and Parkinson disease-associated genes (GBA). Pathway analyses evidenced enrichment of associated genes in immunity, inflammation, and Alzheimer disease and Parkinson disease pathways.ConclusionsWhole genome sequence-wide search reveals intriguing new loci associated with brain measures. Replication of novel loci is needed to confirm these findings.

Published
2018

26. 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

27. Novel genetic loci underlying human intracranial volume identified through genome-wide association

Author

Adams, Hieab HH, Hibar, Derrek P, Chouraki, Vincent, Stein, Jason L, Nyquist, Paul A, Rentería, Miguel E, Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivières, Sylvane, Beecham, Ashley H, Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C, Blanken, Laura ME, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, Braber, Anouk Den, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Greven, Corina U, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K, Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liao, Jiemin, Liewald, David CM, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, Mazoyer, Bernard, McKay, David R, McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L, Maniega, Susana Muñoz, Nho, Kwangsik, Nugent, Allison C, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Pütz, Benno, Rajan, Kumar B, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, and Satizabal, Claudia L

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Human Genome, Biotechnology, Brain Disorders, Clinical Research, Aging, Prevention, Neurodegenerative, Genetics, 2.1 Biological and endogenous factors, Brain, Cognition, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Oncogene Protein v-akt, Parkinson Disease, Phenotype, Phosphatidylinositol 3-Kinases, Polymorphism, Single Nucleotide, White People, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.

Published
2016

28. Research considerations for prospective studies of patients with coma and disorders of consciousness

Author

Tinti, L, Lawson, T, Molteni, E, Kondziella, D, Rass, V, Sharshar, T, Bodien, Y, Giacino, J, Mayer, S, Amiri, M, Muehlschlegel, S, Venkatasubba Rao, C, Vespa, P, Menon, D, Citerio, G, Helbok, R, Mcnett, M, Agarwal, S, Aiyagari, V, Akbari, Y, Albertson, A, Alexander, S, Alexandrov, A, Alkhachroum, A, Al-Mufti, F, Appavu, B, Gebrewold, M, Ayounb, M, Badenes, R, Bader, M, Badjiata, N, Balu, R, Barlow, B, Barra, M, Beekman, R, Beghi, E, Beqiri, E, Berlin, T, Bilotta, F, Bleck, T, Boerwinkle, V, Boly, M, Bonnel, A, Brazzi, L, Brown, E, Bulic, S, Caceres, E, Caceres, A, Cafiero, T, Carroll, E, Cediel, E, Chou, S, Claassen, J, Condie, C, Conti, A, Cosmas, K, Costa, P, Creutzfeldt, C, Dangayach, N, Dauri, M, Debicki, D, Degeorgia, M, Der-Nigoghossian, C, Desai, M, Dhar, R, Diringer, M, Durr, E, Edlow, B, Ercole, A, Estraneo, A, Falcone, G, Farrokh, S, Ferguson, A, Fernandez-Espejo, D, Fink, E, Fins, J, Foreman, B, Franchi, F, Frontera, J, Ganesan, R, Gaspard, N, Ghavam, A, Gibbons, C, Gilmore, E, Glustein, C, Gosseries, O, Green, T, Greer, D, Guanci, M, Gupta, D, Hahn, C, Hakimi, R, Hammond, F, Hanley, D, Hartings, J, Hassan, A, Hemphill, C, Da Cunha, A, Hinson, H, Hirsch, K, Hocker, S, Hu, P, Hu, X, Human, T, Hwang, D, Illes, J, Jaffa, M, James, M, Janas, A, Johnson, S, Jones, M, Jox, R, Kalanuria, A, Keller, E, Kennedy, L, Kennelly, M, Keogh, M, Kim, J, Kim, K, Kirsch, H, Kirschen, M, Ko, N, Kreitzer, N, Kromm, J, Kumar, A, Kurtz, P, Laureys, S, Lejeune, N, Lewis, A, Liang, J, Ling, G, Livesay, S, Luppi, A, Macdonald, J, Maddux, C, Mahanes, D, Mainali, S, Maldonado, N, Ribeiro, R, Mascia, L, Massimini, M, Mathur, R, Mccredie, V, Mejia-Mantilla, J, Mendoza, M, Meyfroidt, G, Mijangos, J, Moberg, D, Moheet, A, Montalenti, E, Monti, M, Morrison, C, Munar, M, Murtaugh, B, Naccache, L, Nagayama, M, Nairon, E, Nakagawa, T, Naldi, A, Narenthiran, G, Natarajan, G, Nemetsky, E, Newcombe, V, Nielsen, N, Niznick, N, Noronha-Falcão, F, Nyquist, P, Olson, D, Othman, M, Owen, A, Padayachy, L, Pajoumand, M, Park, S, Pergakis, M, Perry, H, Polizzotto, L, Pouratian, N, Spivack, M, Prisco, L, Provencio, J, Puglises, F, Puybasset, L, Rao, C, Rasmussen, L, Rasulo, F, Ray, B, Ricci, Z, Richardson, R, Shinotsuka, C, Robba, C, Robertson, C, Rohaut, B, Rolston, J, Romagnoli, S, Rosanova, M, Rosenthal, E, Rowe, S, Rubin, M, Russell, M, Silva, G, Sanz, L, Sarasso, S, Sarwal, A, Schiff, N, Schnakers, C, Seder, D, Shah, V, Shapiro-Rosenbaubm, A, Shapshak, A, Sharma, K, Shutter, L, Sitt, J, Slomine, B, Smetana, K, Smielewski, P, Smith, W, Stamatakis, E, Steinberg, A, Stevens, R, Suarez, J, Sung, G, Sussman, B, Taran, S, Mazzeo, A, Thibaut, A, Thompson, D, Threlkeld, Z, Toker, D, Torbey, M, Tosto, J, Trevick, S, Tsaousi, G, Turgeon, A, Udy, A, Varelas, P, Videtta, W, Voss, H, Vox, F, Wagner, A, Wahlster, S, Wainwright, M, Whyte, J, Witherspoon, B, Yakhkind, A, Yeager, S, Young, M, Zafar, S, Zafonte, R, Zahuranec, D, Zammit, C, Zhang, B, Ziai, W, Zimmerman, L, Zink, E, Tinti, Lorenzo, Lawson, Thomas, Molteni, Erika, Kondziella, Daniel, Rass, Verena, Sharshar, Tarek, Bodien, Yelena G, Giacino, Joseph T, Mayer, Stephan A, Amiri, Moshgan, Muehlschlegel, Susanne, Venkatasubba Rao, Chethan P, Vespa, Paul M, Menon, David K, Citerio, Giuseppe, Helbok, Raimund, McNett, Molly, Agarwal, Sachin, Aiyagari, Venkatesh, Akbari, Yama, Albertson, Asher, Alexander, Sheila, Alexandrov, Anne, Alkhachroum, Ayham, Al-Mufti, Fawaz, Amiri, Moshagan, Appavu, Brian, Gebrewold, Meron Awraris, Ayounb, Marc, Badenes, Rafael, Bader, Mary Kay, Badjiata, Neeraj, Balu, Ram, Barlow, Brooke, Barra, Megan, Beekman, Rachel, Beghi, Ettore, Beqiri, Erta, Berlin, Tracey, Bilotta, Federico, Bleck, Thomas, Bodien, Yelena, Boerwinkle, Varina, Boly, Melanie, Bonnel, Alexandra, Brazzi, Luca, Brown, Emery, Bulic, Sebina, Caceres, Eder, Caceres, Adrian, Cafiero, Tullio, Carroll, Elizabeth, Cediel, Emilio G, Chou, Sherry, Claassen, Jan, Condie, Chad, Conti, Alfredo, Cosmas, Katie, Costa, Paolo, Creutzfeldt, Claire, Dangayach, Neha, Dauri, Mario, Debicki, Derek, DeGeorgia, Michael, Der-Nigoghossian, Caroline, Desai, Masoom, Dhar, Rajat, Diringer, Michael, Durr, Emily, Edlow, Brian, Ercole, Ari, Estraneo, Anna, Falcone, Guido, Farrokh, Salia, Ferguson, Adam, Fernandez-Espejo, Davinia, Fink, Ericka, Fins, Joseph, Foreman, Brandon, Franchi, Federico, Frontera, Jennifer, Ganesan, Rishi, Gaspard, Nicolas, Ghavam, Ahmeneh, Giacino, Joseph, Gibbons, Christie, Gilmore, Emily, Glustein, Chavie, Gosseries, Olivia, Green, Theresa, Greer, David, Guanci, Mary, Gupta, Deepak, Hahn, Cecil, Hakimi, Ryan, Hammond, Flora, Hanley, Daniel F, Hartings, Jed, Hassan, Ahmed, Hemphill, Claude, Da Cunha, Arthur Henrique Galvão Bruno, Hinson, Holly, Hirsch, Karen, Hocker, Sarah, Hu, Peter, Hu, Xiao, Human, Theresa, Hwang, David, Illes, Judy, Jaffa, Matthew, James, Michael L, Janas, Anna, Johnson, Susan, Jones, Morgan, Jox, Ralf J, Kalanuria, Atul, Keller, Emanuela, Kennedy, Lori, Kennelly, Megan, Keogh, Maggie, Kim, Jenn, Kim, Keri, Kirsch, Hannah, Kirschen, Matthew, Ko, Nerissa, Kreitzer, Natalie, Kromm, Julie, Kumar, Abhay, Kurtz, Pedro, Laureys, Steven, Lejeune, Nicolas, Lewis, Ariane, Liang, John, Ling, Geoffrey, Livesay, Sarah, Luppi, Andrea, MacDonald, Jennifer, Maddux, Craig, Mahanes, Dea, Mainali, Shraddha, Maldonado, Nelson, Ribeiro, Rennan Martins, Mascia, Luciana, Massimini, Marcello, Mathur, Rohan, Mayer, Stephan, McCredie, Victoria, Mejia-Mantilla, Jorge, Mendoza, Michael, Menon, David, Meyfroidt, Geert, Mijangos, Julio, Moberg, Dick, Moheet, Asma, Montalenti, Elisa, Monti, Martin, Morrison, Chris, Munar, Marina, Murtaugh, Brooke, Naccache, Lionel, Nagayama, Masao, Nairon, Emerson, Nakagawa, Thomas, Naldi, Andrea, Narenthiran, Ganesalingam, Natarajan, Girija, Nemetsky, Esther, Newcombe, Virginia, Nielsen, Niklas, Niznick, Naomi, Noronha-Falcão, Filipa, Nyquist, Paul, Olson, DaiWai, Othman, Marwan, Owen, Adrian, Padayachy, Llewellyn, Pajoumand, Mehrnaz, Park, Soojin, Pergakis, Melissa, Perry, Heidi, Polizzotto, Len, Pouratian, Nader, Spivack, Marilyn Price, Prisco, Lara, Provencio, Javier, Puglises, Francesco, Puybasset, Louis, Rao, Chethan, Rasmussen, Lindsay, Rasulo, Frank, Ray, Bappaditya, Ricci, Zaccaria, Richardson, Risa, Shinotsuka, Cassia Righy, Robba, Chiara, Robertson, Courtney, Rohaut, Benjamin, Rolston, John, Romagnoli, Stefano, Rosanova, Mario, Rosenthal, Eric, Rowe, Shaun, Rubin, Michael, Russell, Mary Beth, Silva, Gisele Sampaio, Sanz, Leandro, Sarasso, Simone, Sarwal, Aarti, Schiff, Nicolas, Schnakers, Caroline, Seder, David, Shah, Vishank Arun, Shapiro-Rosenbaubm, Amy, Shapshak, Angela, Sharma, Kartavya, Sharma, Kumar Ajay, Shutter, Lori, Sitt, Jacobo, Slomine, Beth, Smetana, Keaton, Smielewski, Peter, Smith, Wade, Stamatakis, Emmanuel, Steinberg, Alexis, Stevens, Robert, Suarez, Jose, Sung, Gene, Sussman, Bethany, Taran, Shaurya, Mazzeo, Anna Teresa, Thibaut, Aurore, Thompson, David, Threlkeld, Zachary, Toker, Daniel, Torbey, Michel, Tosto, Jenna, Trevick, Stephen, Tsaousi, Georgia, Turgeon, Alexis, Udy, Andrew, Varelas, Panos, Vespa, Paul, Videtta, Walter, Voss, Henning, Vox, Ford, Wagner, Amy, Wahlster, Sarah, Wainwright, Mark, Whyte, John, Witherspoon, Briana, Yakhkind, Aleksandra (Sasha), Yeager, Susan, Young, Michael, Zafar, Sahar, Zafonte, Ross, Zahuranec, Darin, Zammit, Chris, Zhang, Bei, Ziai, Wendy, Zimmerman, Lara, Zink, Elizabeth, Tinti, L, Lawson, T, Molteni, E, Kondziella, D, Rass, V, Sharshar, T, Bodien, Y, Giacino, J, Mayer, S, Amiri, M, Muehlschlegel, S, Venkatasubba Rao, C, Vespa, P, Menon, D, Citerio, G, Helbok, R, Mcnett, M, Agarwal, S, Aiyagari, V, Akbari, Y, Albertson, A, Alexander, S, Alexandrov, A, Alkhachroum, A, Al-Mufti, F, Appavu, B, Gebrewold, M, Ayounb, M, Badenes, R, Bader, M, Badjiata, N, Balu, R, Barlow, B, Barra, M, Beekman, R, Beghi, E, Beqiri, E, Berlin, T, Bilotta, F, Bleck, T, Boerwinkle, V, Boly, M, Bonnel, A, Brazzi, L, Brown, E, Bulic, S, Caceres, E, Caceres, A, Cafiero, T, Carroll, E, Cediel, E, Chou, S, Claassen, J, Condie, C, Conti, A, Cosmas, K, Costa, P, Creutzfeldt, C, Dangayach, N, Dauri, M, Debicki, D, Degeorgia, M, Der-Nigoghossian, C, Desai, M, Dhar, R, Diringer, M, Durr, E, Edlow, B, Ercole, A, Estraneo, A, Falcone, G, Farrokh, S, Ferguson, A, Fernandez-Espejo, D, Fink, E, Fins, J, Foreman, B, Franchi, F, Frontera, J, Ganesan, R, Gaspard, N, Ghavam, A, Gibbons, C, Gilmore, E, Glustein, C, Gosseries, O, Green, T, Greer, D, Guanci, M, Gupta, D, Hahn, C, Hakimi, R, Hammond, F, Hanley, D, Hartings, J, Hassan, A, Hemphill, C, Da Cunha, A, Hinson, H, Hirsch, K, Hocker, S, Hu, P, Hu, X, Human, T, Hwang, D, Illes, J, Jaffa, M, James, M, Janas, A, Johnson, S, Jones, M, Jox, R, Kalanuria, A, Keller, E, Kennedy, L, Kennelly, M, Keogh, M, Kim, J, Kim, K, Kirsch, H, Kirschen, M, Ko, N, Kreitzer, N, Kromm, J, Kumar, A, Kurtz, P, Laureys, S, Lejeune, N, Lewis, A, Liang, J, Ling, G, Livesay, S, Luppi, A, Macdonald, J, Maddux, C, Mahanes, D, Mainali, S, Maldonado, N, Ribeiro, R, Mascia, L, Massimini, M, Mathur, R, Mccredie, V, Mejia-Mantilla, J, Mendoza, M, Meyfroidt, G, Mijangos, J, Moberg, D, Moheet, A, Montalenti, E, Monti, M, Morrison, C, Munar, M, Murtaugh, B, Naccache, L, Nagayama, M, Nairon, E, Nakagawa, T, Naldi, A, Narenthiran, G, Natarajan, G, Nemetsky, E, Newcombe, V, Nielsen, N, Niznick, N, Noronha-Falcão, F, Nyquist, P, Olson, D, Othman, M, Owen, A, Padayachy, L, Pajoumand, M, Park, S, Pergakis, M, Perry, H, Polizzotto, L, Pouratian, N, Spivack, M, Prisco, L, Provencio, J, Puglises, F, Puybasset, L, Rao, C, Rasmussen, L, Rasulo, F, Ray, B, Ricci, Z, Richardson, R, Shinotsuka, C, Robba, C, Robertson, C, Rohaut, B, Rolston, J, Romagnoli, S, Rosanova, M, Rosenthal, E, Rowe, S, Rubin, M, Russell, M, Silva, G, Sanz, L, Sarasso, S, Sarwal, A, Schiff, N, Schnakers, C, Seder, D, Shah, V, Shapiro-Rosenbaubm, A, Shapshak, A, Sharma, K, Shutter, L, Sitt, J, Slomine, B, Smetana, K, Smielewski, P, Smith, W, Stamatakis, E, Steinberg, A, Stevens, R, Suarez, J, Sung, G, Sussman, B, Taran, S, Mazzeo, A, Thibaut, A, Thompson, D, Threlkeld, Z, Toker, D, Torbey, M, Tosto, J, Trevick, S, Tsaousi, G, Turgeon, A, Udy, A, Varelas, P, Videtta, W, Voss, H, Vox, F, Wagner, A, Wahlster, S, Wainwright, M, Whyte, J, Witherspoon, B, Yakhkind, A, Yeager, S, Young, M, Zafar, S, Zafonte, R, Zahuranec, D, Zammit, C, Zhang, B, Ziai, W, Zimmerman, L, Zink, E, Tinti, Lorenzo, Lawson, Thomas, Molteni, Erika, Kondziella, Daniel, Rass, Verena, Sharshar, Tarek, Bodien, Yelena G, Giacino, Joseph T, Mayer, Stephan A, Amiri, Moshgan, Muehlschlegel, Susanne, Venkatasubba Rao, Chethan P, Vespa, Paul M, Menon, David K, Citerio, Giuseppe, Helbok, Raimund, McNett, Molly, Agarwal, Sachin, Aiyagari, Venkatesh, Akbari, Yama, Albertson, Asher, Alexander, Sheila, Alexandrov, Anne, Alkhachroum, Ayham, Al-Mufti, Fawaz, Amiri, Moshagan, Appavu, Brian, Gebrewold, Meron Awraris, Ayounb, Marc, Badenes, Rafael, Bader, Mary Kay, Badjiata, Neeraj, Balu, Ram, Barlow, Brooke, Barra, Megan, Beekman, Rachel, Beghi, Ettore, Beqiri, Erta, Berlin, Tracey, Bilotta, Federico, Bleck, Thomas, Bodien, Yelena, Boerwinkle, Varina, Boly, Melanie, Bonnel, Alexandra, Brazzi, Luca, Brown, Emery, Bulic, Sebina, Caceres, Eder, Caceres, Adrian, Cafiero, Tullio, Carroll, Elizabeth, Cediel, Emilio G, Chou, Sherry, Claassen, Jan, Condie, Chad, Conti, Alfredo, Cosmas, Katie, Costa, Paolo, Creutzfeldt, Claire, Dangayach, Neha, Dauri, Mario, Debicki, Derek, DeGeorgia, Michael, Der-Nigoghossian, Caroline, Desai, Masoom, Dhar, Rajat, Diringer, Michael, Durr, Emily, Edlow, Brian, Ercole, Ari, Estraneo, Anna, Falcone, Guido, Farrokh, Salia, Ferguson, Adam, Fernandez-Espejo, Davinia, Fink, Ericka, Fins, Joseph, Foreman, Brandon, Franchi, Federico, Frontera, Jennifer, Ganesan, Rishi, Gaspard, Nicolas, Ghavam, Ahmeneh, Giacino, Joseph, Gibbons, Christie, Gilmore, Emily, Glustein, Chavie, Gosseries, Olivia, Green, Theresa, Greer, David, Guanci, Mary, Gupta, Deepak, Hahn, Cecil, Hakimi, Ryan, Hammond, Flora, Hanley, Daniel F, Hartings, Jed, Hassan, Ahmed, Hemphill, Claude, Da Cunha, Arthur Henrique Galvão Bruno, Hinson, Holly, Hirsch, Karen, Hocker, Sarah, Hu, Peter, Hu, Xiao, Human, Theresa, Hwang, David, Illes, Judy, Jaffa, Matthew, James, Michael L, Janas, Anna, Johnson, Susan, Jones, Morgan, Jox, Ralf J, Kalanuria, Atul, Keller, Emanuela, Kennedy, Lori, Kennelly, Megan, Keogh, Maggie, Kim, Jenn, Kim, Keri, Kirsch, Hannah, Kirschen, Matthew, Ko, Nerissa, Kreitzer, Natalie, Kromm, Julie, Kumar, Abhay, Kurtz, Pedro, Laureys, Steven, Lejeune, Nicolas, Lewis, Ariane, Liang, John, Ling, Geoffrey, Livesay, Sarah, Luppi, Andrea, MacDonald, Jennifer, Maddux, Craig, Mahanes, Dea, Mainali, Shraddha, Maldonado, Nelson, Ribeiro, Rennan Martins, Mascia, Luciana, Massimini, Marcello, Mathur, Rohan, Mayer, Stephan, McCredie, Victoria, Mejia-Mantilla, Jorge, Mendoza, Michael, Menon, David, Meyfroidt, Geert, Mijangos, Julio, Moberg, Dick, Moheet, Asma, Montalenti, Elisa, Monti, Martin, Morrison, Chris, Munar, Marina, Murtaugh, Brooke, Naccache, Lionel, Nagayama, Masao, Nairon, Emerson, Nakagawa, Thomas, Naldi, Andrea, Narenthiran, Ganesalingam, Natarajan, Girija, Nemetsky, Esther, Newcombe, Virginia, Nielsen, Niklas, Niznick, Naomi, Noronha-Falcão, Filipa, Nyquist, Paul, Olson, DaiWai, Othman, Marwan, Owen, Adrian, Padayachy, Llewellyn, Pajoumand, Mehrnaz, Park, Soojin, Pergakis, Melissa, Perry, Heidi, Polizzotto, Len, Pouratian, Nader, Spivack, Marilyn Price, Prisco, Lara, Provencio, Javier, Puglises, Francesco, Puybasset, Louis, Rao, Chethan, Rasmussen, Lindsay, Rasulo, Frank, Ray, Bappaditya, Ricci, Zaccaria, Richardson, Risa, Shinotsuka, Cassia Righy, Robba, Chiara, Robertson, Courtney, Rohaut, Benjamin, Rolston, John, Romagnoli, Stefano, Rosanova, Mario, Rosenthal, Eric, Rowe, Shaun, Rubin, Michael, Russell, Mary Beth, Silva, Gisele Sampaio, Sanz, Leandro, Sarasso, Simone, Sarwal, Aarti, Schiff, Nicolas, Schnakers, Caroline, Seder, David, Shah, Vishank Arun, Shapiro-Rosenbaubm, Amy, Shapshak, Angela, Sharma, Kartavya, Sharma, Kumar Ajay, Shutter, Lori, Sitt, Jacobo, Slomine, Beth, Smetana, Keaton, Smielewski, Peter, Smith, Wade, Stamatakis, Emmanuel, Steinberg, Alexis, Stevens, Robert, Suarez, Jose, Sung, Gene, Sussman, Bethany, Taran, Shaurya, Mazzeo, Anna Teresa, Thibaut, Aurore, Thompson, David, Threlkeld, Zachary, Toker, Daniel, Torbey, Michel, Tosto, Jenna, Trevick, Stephen, Tsaousi, Georgia, Turgeon, Alexis, Udy, Andrew, Varelas, Panos, Vespa, Paul, Videtta, Walter, Voss, Henning, Vox, Ford, Wagner, Amy, Wahlster, Sarah, Wainwright, Mark, Whyte, John, Witherspoon, Briana, Yakhkind, Aleksandra (Sasha), Yeager, Susan, Young, Michael, Zafar, Sahar, Zafonte, Ross, Zahuranec, Darin, Zammit, Chris, Zhang, Bei, Ziai, Wendy, Zimmerman, Lara, and Zink, Elizabeth

Abstract

Disorders of consciousness are neurological conditions characterized by impaired arousal and awareness of self and environment. Behavioural responses are absent or are present but fluctuate. Disorders of consciousness are commonly encountered as a consequence of both acute and chronic brain injuries, yet reliable epidemiological estimates would require inclusive, operational definitions of the concept, as well as wider knowledge dissemination among involved professionals. Whereas several manifestations have been described, including coma, vegetative state/unresponsive wakefulness syndrome and minimally conscious state, a comprehensive neurobiological definition for disorders of consciousness is still lacking. The scientific literature is primarily observational, and studies-specific aetiologies lead to disorders of consciousness. Despite advances in these disease-related forms, there remains uncertainty about whether disorders of consciousness are a disease-agnostic unitary entity with a common mechanism, prognosis or treatment response paradigm. Our knowledge of disorders of consciousness has also been hampered by heterogeneity of study designs, variables, and outcomes, leading to results that are not comparable for evidence synthesis. The different backgrounds of professionals caring for patients with disorders of consciousness and the different goals at different stages of care could partly explain this variability. The Prospective Studies working group of the Neurocritical Care Society Curing Coma Campaign was established to create a platform for observational studies and future clinical trials on disorders of consciousness and coma across the continuum of care. In this narrative review, the author panel presents limitations of prior observational clinical research and outlines practical considerations for future investigations. A narrative review format was selected to ensure that the full breadth of study design considerations could be addressed and to facilit

Published
2024

31. The Use of Ultrasound to Measure Optic Nerve Sheath Diameter: Shadows of the Black Box*.

Author

Nyquist, Paul FCCM, FANA, FAHA and Lefebvre, Austen T.

Subjects
*INTRACRANIAL hypertension, *NEUROLOGICAL disorders, *NEUROLOGICAL emergencies, *BRAIN injuries, *CRITICAL care medicine
Abstract

The article discusses the use of ultrasound to measure optic nerve sheath diameter (ONSD) as a potential method for detecting elevated intracranial pressure (ICP) in patients with brain injuries. The authors highlight the challenges of accurately measuring ICP and the potential benefits of using ONSD as a noninvasive and easily accessible tool. However, they also note that there is currently a lack of standardized thresholds for ONSD and limited clinical trial data to validate its use in different neurologic emergencies. The article introduces a consensus checklist for the use of ONSD, which could potentially improve the standardization and effectiveness of this technique in clinical practice. [Extracted from the article]

Published
2024
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34. Genetic architecture of subcortical brain structures in 38,851 individuals

Author

Satizabal, Claudia L., Adams, Hieab H. H., 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., Schmidt, Helena, Strike, Lachlan T., Cheng, Ching-Yu, Risacher, Shannon L., Pütz, Benno, Fleischman, Debra A., Assareh, Amelia A., Mattay, Venkata S., Buckner, Randy L., Mecocci, Patrizia, Dale, Anders M., Cichon, Sven, Boks, Marco P., Matarin, Mar, Penninx, Brenda W. J. H., Calhoun, Vince D., Chakravarty, M. Mallar, Marquand, Andre F., Macare, Christine, Kharabian Masouleh, Shahrzad, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome I., Schork, Andrew J., Liewald, David C. M., de Zubicaray, Greig I., Wong, Tien Yin, Shen, Li, Sämann, Philipp G., Brodaty, Henry, Roffman, Joshua L., de Geus, Eco J. C., Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R., Cavalleri, Gianpiero L., van der Wee, Nic J. A., McIntosh, Andrew M., Gollub, Randy L., Bulayeva, Kazima B., Bernard, Manon, Richards, Jennifer S., Himali, Jayandra J., Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T., Valdés Hernández, Maria C., Hansell, Narelle K., van Erp, Theo G. M., Wolf, Christiane, Kwok, John B. J., Vellas, Bruno, Heinz, Andreas, Olde Loohuis, Loes M., Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R. K., Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M., Bastin, Mark E., Montgomery, Grant W., Foroud, Tatiana M., Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D., van Donkelaar, Marjolein M. J., Yang, Qiong, Hosten, Norbert, Green, Robert C, Thalamuthu, Anbupalam, Mohnke, Sebastian, Hulshoff Pol, Hilleke E., Lin, Honghuang, Jack, Jr, Clifford R., Schofield, Peter R., Mühleisen, Thomas W., Maillard, Pauline, Potkin, Steven G., Wen, Wei, Fletcher, Evan, Toga, Arthur W., Gruber, Oliver, Huentelman, Matthew, Davey Smith, George, Launer, Lenore J., Nyberg, Lars, Jönsson, Erik G., Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N., Uitterlinden, André G., Weinberger, Daniel R., Steen, Vidar M., Fedko, Iryna O., Groenewold, Nynke A., Niessen, Wiro J., Toro, Roberto, Tzourio, Christophe, Longstreth, Jr, William T., Ikram, M. Kamran, Smoller, Jordan W., van Tol, Marie-Jose, Sussmann, Jessika E., Paus, Tomas, Lemaître, Hervé, Schroeter, Matthias L., Mazoyer, Bernard, Andreassen, Ole A., Holsboer, Florian, Depondt, Chantal, Veltman, Dick J., Turner, Jessica A., Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J., McMahon, Katie L., Müller-Myhsok, Bertram, Brouwer, Rachel M., Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H., Cheung, Joshua W., Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P., Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G., Kanai, Ryota, Westman, Eric, Kahn, René S., Sisodiya, Sanjay M., White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G., Völzke, Henry, Wright, Margaret J., van ‘t Ent, Dennis, Nöthen, Markus M., Ophoff, Roel A., Buitelaar, Jan K., Fernández, Guillén, Sachdev, Perminder S., Rietschel, Marcella, van Haren, Neeltje E. M., Fisher, Simon E., Beiser, Alexa S., Francks, Clyde, Saykin, Andrew J., Mather, Karen A., Romanczuk-Seiferth, Nina, Hartman, Catharina A., DeStefano, Anita L., Heslenfeld, Dirk J., Weiner, Michael W., Walter, Henrik, Hoekstra, Pieter J., Nyquist, Paul A., Franke, Barbara, Bennett, David A., Grabe, Hans J., Johnson, Andrew D., Chen, Christopher, van Duijn, Cornelia M., Lopez, Oscar L., Fornage, Myriam, Wardlaw, Joanna M., Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L., Villringer, Arno, Debette, Stéphanie, Gudnason, Vilmundur, Medland, Sarah E., Shulman, Joshua M., Thompson, Paul M., Seshadri, Sudha, and Ikram, M. Arfan

Published
2019
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35. Common Data Element for Unruptured Intracranial Aneurysm and Subarachnoid Hemorrhage: Recommendations from Assessments and Clinical Examination Workgroup/Subcommittee

Author

Damani, Rahul, Mayer, Stephan, Dhar, Raj, Martin, Renee H., Nyquist, Paul, Olson, DaiWai M., Mejia-Mantilla, Jorge H., Muehlschlegel, Susanne, Jauch, Edward C., Mocco, J., Mutoh, Tatsushi, Suarez, Jose I., and the Unruptured Intracranial Aneurysms and SAH CDE Project Investigators

Published
2019
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36. 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. Haptoglobin genotype and aneurysmal subarachnoid hemorrhage: Individual patient data analysis

Author

Gaastra, Ben, Ren, Dianxu, Alexander, Sheila, Bennett, Ellen R., Bielawski, Dawn M., Blackburn, Spiros L., Borsody, Mark K., Doré, Sylvain, Galea, James, Garland, Patrick, He, Tian, Iihara, Koji, Kawamura, Yoichiro, Leclerc, Jenna L., Meschia, James F., Pizzi, Michael A., Tamargo, Rafael J., Yang, Wuyang, Nyquist, Paul A., Bulters, Diederik O., and Galea, Ian

Published
2019
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39. A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis

Author

Neurogenetica, Neurologen, Brain, Circulatory Health, Gaastra, Ben, Alexander, Sheila, Bakker, Mark K., Bhagat, Hemant, Bijlenga, Philippe, Blackburn, Spiros L., Collins, Malie K., Doré, Sylvain, Griessenauer, Christoph J., Hendrix, Philipp, Hong, Eun Pyo, Hostettler, Isabel C., Houlden, Henry, IIhara, Koji, Jeon, Jin Pyeong, Kim, Bong Jun, Li, Jiang, Morel, Sandrine, Nyquist, Paul, Ren, Dianxu, Ruigrok, Ynte M., Werring, David, Tapper, Will, Galea, Ian, Bulters, Diederik, Neurogenetica, Neurologen, Brain, Circulatory Health, Gaastra, Ben, Alexander, Sheila, Bakker, Mark K., Bhagat, Hemant, Bijlenga, Philippe, Blackburn, Spiros L., Collins, Malie K., Doré, Sylvain, Griessenauer, Christoph J., Hendrix, Philipp, Hong, Eun Pyo, Hostettler, Isabel C., Houlden, Henry, IIhara, Koji, Jeon, Jin Pyeong, Kim, Bong Jun, Li, Jiang, Morel, Sandrine, Nyquist, Paul, Ren, Dianxu, Ruigrok, Ynte M., Werring, David, Tapper, Will, Galea, Ian, and Bulters, Diederik

Published
2023

41. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Author

Chauhan, Ganesh, Adams, Hieab H.H., Satizabal, Claudia L., Bis, Joshua C., Teumer, Alexander, Sargurupremraj, Muralidharan, Hofer, Edith, Trompet, Stella, Hilal, Saima, Smith, Albert Vernon, Jian, Xueqiu, Malik, Rainer, Traylor, Matthew, Pulit, Sara L., Amouyel, Philippe, Mazoyer, Bernard, Zhu, Yi-Cheng, Kaffashian, Sara, Schilling, Sabrina, Beecham, Gary W., Montine, Thomas J., Schellenberg, Gerard D., Kjartansson, Olafur, Guðnason, Vilmundur, Knopman, David S., Griswold, Michael E., Windham, B. Gwen, Gottesman, Rebecca F., Mosley, Thomas H., Schmidt, Reinhold, Saba, Yasaman, Schmidt, Helena, Takeuchi, Fumihiko, Yamaguchi, Shuhei, Nabika, Toru, Kato, Norihiro, Rajan, Kumar B., Aggarwal, Neelum T., De Jager, Philip L., Evans, Denis A., Psaty, Bruce M., Rotter, Jerome I., Rice, Kenneth, Lopez, Oscar L., Liao, Jiemin, Chen, Christopher, Cheng, Ching-Yu, Wong, Tien Y., Ikram, Mohammad K., van der Lee, Sven J., Amin, Najaf, Chouraki, Vincent, DeStefano, Anita L., Aparicio, Hugo J., Romero, Jose R., Maillard, Pauline, DeCarli, Charles, Wardlaw, Joanna M., Hernández, Maria del C. Valdés, Luciano, Michelle, Liewald, David, Deary, Ian J., Starr, John M., Bastin, Mark E., Muñoz Maniega, Susana, Slagboom, P. Eline, Beekman, Marian, Deelen, Joris, Uh, Hae-Won, Lemmens, Robin, Brodaty, Henry, Wright, Margaret J., Ames, David, Boncoraglio, Giorgio B., Hopewell, Jemma C., Beecham, Ashley H., Blanton, Susan H., Wright, Clinton B., Sacco, Ralph L., Wen, Wei, Thalamuthu, Anbupalam, Armstrong, Nicola J., Chong, Elizabeth, Schofield, Peter R., Kwok, John B., van der Grond, Jeroen, Stott, David J., Ford, Ian, Jukema, J. Wouter, Vernooij, Meike W., Hofman, Albert, Uitterlinden, André G., van der Lugt, Aad, Wittfeld, Katharina, Grabe, Hans J., Hosten, Norbert, von Sarnowski, Bettina, Völker, Uwe, Levi, Christopher, Jimenez-Conde, Jordi, Sharma, Pankaj, Sudlow, Cathie L.M., Rosand, Jonathan, Woo, Daniel, Cole, John W., Meschia, James F., Slowik, Agnieszka, Thijs, Vincent, Lindgren, Arne, Melander, Olle, Grewal, Raji P., Rundek, Tatjana, Rexrode, Kathy, Rothwell, Peter M., Arnett, Donna K., Jern, Christina, Johnson, Julie A., Benavente, Oscar R., Wasssertheil-Smoller, Sylvia, Lee, Jin-Moo, Wong, Quenna, Mitchell, Braxton D., Rich, Stephen S., McArdle, Patrick F., Geerlings, Mirjam I., van der Graaf, Yolanda, de Bakker, Paul I.W., Asselbergs, Folkert W., Srikanth, Velandai, Thomson, Russell, McWhirter, Rebekah, Moran, Chris, Callisaya, Michele, Phan, Thanh, Rutten-Jacobs, Loes C.A., Bevan, Steve, Tzourio, Christophe, Mather, Karen A., Sachdev, Perminder S., van Duijn, Cornelia M., Worrall, Bradford B., Dichgans, Martin, Kittner, Steven J., Markus, Hugh S., Ikram, Mohammad A., Fornage, Myriam, Launer, Lenore J., Seshadri, Sudha, Longstreth, W.T., Jr, Debette, Stéphanie, Almgren, Peter, Anderson, Christopher D., Arnett, Donna K., Attia, John, Ay, Hakan, Benavente, Oscar R., Bevan, Steve, Brown, Robert D., Bustamante, Mariana, Cheng, Yu-Ching, Cole, John W., Cotlarciuc, Ioana, Cruchaga, Carlos, de Bakker, Paul IW., Delavaran, Hossein, Dichgans, Martin, Engström, Gunnar, Fornage, Myriam, Grewal, Raji P., Heitsch, Laura, Holliday, Elizabeth, Ibanez, Laure, Ilinca, Andreea, Irvin, Marguerite R., Jackson, Rebecca D., Jern, Christina, Jimenez-Conde, Jordi, Johnson, Julie A., Jood, Katarina, Kissela, Brett M., Kittner, Steven J., Kleindorfer, Dawn O., Labovitz, Daniel, Laurie, Cathy C., Lee, Jin-Moo, Lemmens, Robin, Levi, Christopher, Li, Linxin, Lindgren, Arne G., Maguire, Jane, Markus, Hugh S., McArdle, Patrick F., Melander, Olle, Meschia, James F., Mitchell, Braxton D., Müller-Nurasyid, Martina, Norrving, Bo, Peddareddygari, Leema Reddy, Pera, Joanna, Pulit, Sara L., Rexrode, Kathryn, Ribasés, Marta, Roquer, Jaume, Rost, Natalia S., Rothwell, Peter M., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Soriano-Tárraga, Carolina, Stanne, Tara, Stauch, Konstantin, Stine, O C., Sudlow, Cathie LM., Thijs, Vincent N.S., Wasssertheil-Smoller, Sylvia, Weir, David, Williams, Stephen R., Wong, Quenna, Woo, Daniel, Worrall, Bradford B., Xu, Huichun, Seshadri, Sudha, Hyacinth, Hyacinth I, Marini, Sandro, Nyquist, Paul, Lewis, Cathryn, Hansen, Bjorn, Norrving, Bo, Rosand, Jonathan, Biffi, Alessandro, Kourkoulis, Christina, Anderson, Chris, Giese, Anne-Katrin, Sacco, Ralph, Sharma, Pankaj, Chung, Jong-Won, Kim, Gyeong-Moon, Lubitz, Steven, Bourcier, Romain, Howson, Joanna, Granata, Alessandra, Drazyk, Anna, Markus, Hugh, Wardlaw, Joanna, Mitchell, Braxton, Cole, John, Hopewell, Jemma, Walters, Robin, Turnbull, Iain, Worrall, Bradford, Bis, Josh, Reiner, Alex, Dhar, Raj, Heitsch, Laura, Lee, Jin-Moo, Prasad, Kameshwar, Sarnowski, Chloé, Aparicio, Hugo Javier, Yang, Qiong, Chasman, Daniel, Rexrode, Kathryn, Phuah, Chia-Ling, Liu, Guiyou, Elkind, Mitchell, Lange, Leslie, Rost, Natalia, James, Michael, Stewart, Jill, Vojinovic, Dina, Thijs, Vincent, Parati, Eugenio, Boncoraglio, Giorgio, Zand, Ramin, Bijlenga, Philippe, Selim, Magdy, Grond-Ginsbach, Caspar, Strbian, Daniel, Tomppo, Liisa, Sallinen, Hanne, Pfeiffer, Dorothea, Torres, Nuria, Barboza, Miguel, Laarman, Melanie, Carriero, Roberta, Holliday, Elizabeth, Jimenez-Conde, Jordi, Soriano, Carolina, Gill, Dipender, Debette, Stephanie, Mishra, Aniket, Wu, Jer-Yuarn, Ko, Tai-Ming, Bione, Silvia, Jood, Katarina, Tatlisumak, Turgut, Holmegaard, Lukas, Yue, Suo, bersano, Anna, Pera, Joanna, Slowik, Agnieszka, Levi, Christopher, Schlicht, Kristina, Lemmens, Robin, Ninomiya, Toshiharu, Oberstein, Saskia Lesnik, Lee, Tsong-Hai, Malik, Rainer, Dichgans, Martin, Lindgren, Arne, Wasselius, Johan, Drake, Mattias, Melander, Olle, Stenman, Martin, Ilinca, Andreea, Crawford, Katherine, Lena, Umme, Mateen, Farrah, Ay, Hakan, Wu, Ona, Schirmer, Markus, Cramer, Steve, Golland, Polina, Brown, Robert, Meschia, James, Ross, Owen A., Pare, Guillaume, Chong, Mike, Rundek, Tatjana, Gwinn, Katrina, Chen, Christopher, Koenig, Jim, Giralt, Eva, Saleheen, Danish, de Leeuw, Frank-Erik, Klijn, Karin, Kamatani, Yoichiro, Kubo, Michiaki, Okada, Yukinori, Pedersen, Annie, Olsson, Maja, Martín, Juan José, Xu, Huichun, Tan, Eng King, Frid, Petrea, Lee, Chaeyoung, Tregouet, David, Leung, Thomas, Choy, Richard, Jern, Christina, Loo, Keat Wei, Rinkel, Gabriel, Franca, Paulo, Cendes, Iscia, Carrera, Caty, Fernandez-Cadenas, Israel, Montaner, Joan, Kim, Helen, Owolabi, Mayowa, Sofat, Reecha, Bakker, Mark, Ruigrok, Ynte, Hauer, Allard, Pulit, Sara L., van der Laan, Sander W., Irvin, Ryan, Sargurupremraj, Murali, Pezzini, Alessandro, Abd-Allah, Foad, Liebeskind, David, Traylor, Matthew, Tan, Rhea, Danesh, John, Rutten-Jacobs, Loes, Donatti, Amanda, Avelar, Wagner, Broderick, Joseph, Woo, Daniel, Sudlow, Cathie, Rannikmae, Kristiina, McDonough, Caitrin Wheeler, van Agtmael, Tom, Walters, Matthew, Söderholm, Martin, Lorentzen, Erik, Olsson, Sandra, Stanne, Tara, Olsson, Martina, Akinyemi, Rufus, Cotlatciuc, Ioana, McArdle, Patrick, Dave, Tushar, Kittner, Steven, Attia, John, Faber, James E, Millwood, Iona, Márquez, Elsa Valdés, Mancuso, Michelangelo, Vibo, Riina, Korv, Janika, Maguire, Jane, Fornage, Myriam, Majersik, Jennifer, DeHavenon, Adam, Alexander, Matthew, Sale, Michele, Southerland, Andrew, Owens, Debra, Psaty, Bruce, Longstreth, W. T., Jr, Wolfe, Stacey Quintero, Langefeld, Carl, Cruchaga, Carlos, Konrad, Jan, Sheth, Kevin, Falcone, Guido, Donahue, Kathleen, Simpkins, Alexis N, Liang Byorn, Tan Wei, Chan, Bernard, Clatworthy, Phil, Florez, Jose, Harshfield, Eric, Hozawa, Atsushi, Hsu, Chung, Hu, Chaur-Jong, Ibanez, Laure, Ihara, Masafumi, Lange, Marcos, Lee, Soo Ji, Lee, I-Hui, Musolino, Patricia, Nakatomi, Hirofumi, Park, Kwang-Yeol, Rich, Stephen S, Riley, Chris, Sung, Joohon, Suzuki, Hideaki, Vo, Katie, Washida, Kazuo, Ibenez, Laura Garcia, Slowik, Agnieszka, Hofman, Albert, Algra, Ale, Reiner, Alex P, Doney, Alexander S F, Gschwendtner, Andreas, Ilinca, Andreea, Giese, Anne-Katrin, Lindgren, Arne, Vicente, Astrid M, Norrving, Bo, Nordestgaard, Børge G, Mitchell, Braxton D, Worrall, Bradford B, Psaty, Bruce M, Carty, Cara L, Sudlow, Cathie, Anderson, Christopher D, Levi, Christopher, Satizabal, Claudia L, Palmer, Colin N A, Gamble, Dale M, Woo, Daniel, Saleheen, Danish, Ringelstein, E Bernd, Valdimarsson, Einar, Holliday, Elizabeth, Davies, Gail, Chauhan, Ganesh, Pasterkamp, Gerard, Boncoraglio, Giorgio, Kuhlenbäumer, Gregor, Thorleifsson, Gudmar, Falcone, Guido J, Pare, Guillame, Schmidt, Helena, Delavaran, Hossein, Markus, Hugh S, Aparicio, Hugo J, Deary, Ian, Cotlarciuc, Ioana, Fernandez-Cadenas, Israel, Meschia, James, Hopewell, Jemma C, Liu, Jingmin, Montaner, Joan, Pera, Joanna, Cole, John, Attia, John R, Rosand, Jonathan, Ferro, Jose M, Bis, Joshua, Furie, Karen, Stefansson, Kari, Berger, Klaus, Kostulas, Konstantinos, Rannikmae, Kristina, Ikram, M Arfan, Benn, Marianne, Dichgans, Martin, Farrall, Martin, Pandolfo, Massimo, Traylor, Matthew, Walters, Matthew, Sale, Michele, Nalls, Mike, Fornage, Myriam, van Zuydam, Natalie R, Sharma, Pankaj, Abrantes, Patricia, de Bakker, Paul IW, Higgins, Peter, Lichtner, Peter, Rothwell, Peter M, Amouyel, Philippe, Yang, Qiong, Malik, Rainer, Schmidt, Reinhold, Clarke, Robert, Lemmens, Robin, van der Laan, Sander W, Pulit, Sara L, Abboud, Sherine, Oliveira, Sofia A, Gretarsdottir, Solveig, Debette, Stephanie, Williams, Stephen R, Bevan, Steve, Kittner, Steven J, Seshadri, Sudha, Mosley, Thomas, Battey, Thomas WK, Tatlisumak, Turgut, Thorsteinsdottir, Unnur, Thijs, Vincent NS, Longstreth, W T, Zhao, Wei, Chen, Wei-Min, Cheng, Yu-Ching, Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Baldwin, Clinton T., Barmada, M. Michael, Barnes, Lisa L., Barral, Sandra, Beach, Thomas G., Becker, James T., Beecham, Gary W., Beekly, Duane, Bennett, David A., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Boxer, Adam, Burke, James R., Burns, Jeffrey M., Buxbaum, Joseph D., Byrd, Goldie S., Cai, Guiqing, Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Duara, Ranjan, Ertekin-Taner, Nilufer, Evans, Denis A., Faber, Kelley M., Fallin, M. 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Published
2019
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45. Abstract WP121: Can The Extended Glasgow Outcome Scale (e-gos) Augment The Interpretation Of Results From Clinical Trials Of Minimally Invasive Surgery Of Spontaneous Intracerebral Hemorrhage Using The Modified Rankin Scale (mrs): A Secondary Analysis Of The Clear-iii And Mistie-iii Trials

Author

Sun, Philip Y, primary, Thompson, Richard, additional, Akindahunsi, Taiwo, additional, Avadhani, Radhika, additional, Nyquist, Paul A, additional, Awad, Issam A, additional, Hanley, Daniel F, additional, and Ziai, Wendy C, additional

Published
2023
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