470 results on '"Sonnen, Joshua A."'
Search Results
2. MicroRNA-210 regulates the metabolic and inflammatory status of primary human astrocytes
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Kieran, Nicholas W., Suresh, Rahul, Dorion, Marie-France, MacDonald, Adam, Blain, Manon, Wen, Dingke, Fuh, Shih-Chieh, Ryan, Fari, Diaz, Roberto J., Stratton, Jo Anne, Ludwin, Samuel K., Sonnen, Joshua A., Antel, Jack, and Healy, Luke M.
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- 2022
- Full Text
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3. Analysis of shared heritability in common disorders of the brain
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Consortium, The Brainstorm, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Kauwe, John SK, Kaye, Jeffrey A, Leverenz, James B, Levey, Allan I, Lieberman, Andrew P, Pankratz, Vernon S, Poon, Wayne W, Quinn, Joseph F, Saykin, Andrew J, Schneider, Lon S, Smith, Amanda G, Sonnen, Joshua A, Stern, Robert A, Van Deerlin, Vivianna M, Van Eldik, Linda J, Harold, Denise, Russo, Giancarlo, Rubinsztein, David C, Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C, Hampel, Harald, Owen, Michael J, Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M, Schott, Jonathan M, Rossor, Martin, Lupton, Michelle K, Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C, Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J, De Jager, Philip L, Geschwind, Daniel H, Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I, Ransmayr, Gerhard, Hyman, Bradley T, Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, and Cuenca-Leon, Ester
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Biological Sciences ,Genetics ,Biological Psychology ,Health Sciences ,Psychology ,Clinical Research ,Mental Health ,Human Genome ,Brain Disorders ,Neurosciences ,Mental Illness ,2.1 Biological and endogenous factors ,Neurological ,Mental health ,Brain Diseases ,Genetic Variation ,Genome-Wide Association Study ,Humans ,Mental Disorders ,Phenotype ,Quantitative Trait ,Heritable ,Risk Factors ,Brainstorm Consortium ,General Science & Technology - Abstract
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.
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- 2018
4. Analysis of shared heritability in common disorders of the brain.
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Brainstorm Consortium, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Kauwe, John SK, Kaye, Jeffrey A, Leverenz, James B, Levey, Allan I, Lieberman, Andrew P, Pankratz, Vernon S, Poon, Wayne W, Quinn, Joseph F, Saykin, Andrew J, Schneider, Lon S, Smith, Amanda G, Sonnen, Joshua A, Stern, Robert A, Van Deerlin, Vivianna M, Van Eldik, Linda J, Harold, Denise, Russo, Giancarlo, Rubinsztein, David C, Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C, Hampel, Harald, Owen, Michael J, Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M, Rossor, Martin, Lupton, Michelle K, Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C, Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J, De Jager, Philip L, Geschwind, Daniel H, Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I, Ransmayr, Gerhard, Hyman, Bradley T, Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, and Furlotte, Nicholas
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Brainstorm Consortium ,Humans ,Brain Diseases ,Risk Factors ,Mental Disorders ,Quantitative Trait ,Heritable ,Phenotype ,Genetic Variation ,Genome-Wide Association Study ,Clinical Research ,Neurosciences ,Rare Diseases ,Human Genome ,Brain Disorders ,Genetics ,Mental Health ,2.1 Biological and endogenous factors ,Mental health ,Neurological ,General Science & Technology - Abstract
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.
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- 2018
5. Trajectories of physical function prior to death and brain neuropathology in a community-based cohort: the act study
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LaCroix, Andrea Z, Hubbard, Rebecca A, Gray, Shelly L, Anderson, Melissa L, Crane, Paul K, Sonnen, Joshua A, Zaslavsky, Oleg, and Larson, Eric B
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Epidemiology ,Health Sciences ,Prevention ,Brain Disorders ,Acquired Cognitive Impairment ,Alzheimer's Disease ,Neurodegenerative ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Dementia ,Neurosciences ,Aging ,Neurological ,Aged ,Aged ,80 and over ,Alzheimer Disease ,Autopsy ,Brain ,Brain Infarction ,Death ,Female ,Humans ,Intracranial Arteriosclerosis ,Male ,Neuropathology ,Prospective Studies ,United States ,Physical function ,Functional decline ,Brain neuropathology ,Alzheimer's disease ,Vascular dementia ,Alzheimer’s disease ,Clinical Sciences ,Human Movement and Sports Sciences ,Geriatrics ,Clinical sciences ,Health services and systems ,Public health - Abstract
BackgroundMechanisms linking cognitive and physical functioning in older adults are unclear. We sought to determine whether brain pathological changes relate to the level or rate of physical performance decline.MethodsThis study analyzed data from 305 participants in the autopsy subcohort of the prospective Adult Changes in Thought (ACT) study. Participants were aged 65+ and free of dementia at enrollment. Physical performance was measured at baseline and every two years using the Short Physical Performance Battery (SPPB). Data from 3174 ACT participants with ≥2 SPPB measurements were used to estimate two physical function measures: 1) rate of SPPB decline defined by intercept and slope; and 2) estimated SPPB 5 years prior to death. Neuropathology findings at autopsy included neurofibrillary tangles (Braak stage), neuritic plaques (CERAD level), presence of amyloid angiopathy, microinfarcts, cystic infarcts, and Lewy bodies. Associations (adjusted for sex, age, body mass index and education) between dichotomized neuropathologic outcomes and SPPB measures were estimated using modified Poisson regression with inverse probability weights (IPW) estimated via Generalized Estimating Equations (GEE). Relative risks for the 20th, 40th, and 60th percentiles (lowest levels and highest rates of decline) relative to the 80th percentile (highest level and lowest rate of decline) were calculated.ResultsDecedents with the least vs. most SPPB decline (slope > 75th vs.
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- 2017
6. Autopsy Human Brain Dissection Protocol for Common Age-Related Neurodegenerative Disorders
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Sonnen, Joshua A., primary
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- 2022
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7. Microinfarcts are common and strongly related to dementia in the oldest‐old: The 90+ study
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Corrada, María M, Sonnen, Joshua A, Kim, Ronald C, and Kawas, Claudia H
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Biomedical and Clinical Sciences ,Biological Psychology ,Clinical Sciences ,Neurosciences ,Psychology ,Aging ,Clinical Research ,Vascular Cognitive Impairment/Dementia ,Prevention ,Brain Disorders ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Alzheimer's Disease ,Neurodegenerative ,Acquired Cognitive Impairment ,Dementia ,Aetiology ,2.4 Surveillance and distribution ,Neurological ,Good Health and Well Being ,Aged ,80 and over ,Brain Infarction ,Cohort Studies ,Female ,Humans ,Male ,Oldest-old ,Cohort studies ,Epidemiology ,Alzheimer's disease ,Neuropathology ,Microinfarctions ,Brain infarctions ,Geriatrics ,Clinical sciences ,Biological psychology - Abstract
IntroductionWe estimated the prevalence of microinfarcts and their association with dementia in a cohort of oldest-old participants.MethodsParticipants were from The 90+ Study, a population-based study of people 90 years and older. Dementia diagnoses were assigned postmortem during a consensus conference. Microinfarcts were evaluated in six brain regions.ResultsAt death, the 213 participants were on average 97 years old, 69% were women, and 52% had dementia. Of the participants, 51% had microinfarcts and 17% had 3+ microinfarcts. The odds ratio (OR) for dementia was similar for 3+ microinfarcts (OR = 4.75, P
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- 2016
8. Multisite assessment of NIA‐AA guidelines for the neuropathologic evaluation of Alzheimer's disease
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Montine, Thomas J, Monsell, Sarah E, Beach, Thomas G, Bigio, Eileen H, Bu, Yunqi, Cairns, Nigel J, Frosch, Matthew, Henriksen, Jonathan, Kofler, Julia, Kukull, Walter A, Lee, Edward B, Nelson, Peter T, Schantz, Aimee M, Schneider, Julie A, Sonnen, Joshua A, Trojanowski, John Q, Vinters, Harry V, Zhou, Xiao‐Hua, and Hyman, Bradley T
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Biomedical and Clinical Sciences ,Biological Psychology ,Clinical Sciences ,Neurosciences ,Psychology ,Neurodegenerative ,Acquired Cognitive Impairment ,Dementia ,Brain Disorders ,Alzheimer's Disease ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Aging ,Neurological ,Alzheimer Disease ,Brain ,Humans ,National Institute on Aging (U.S.) ,Neuropathology ,Practice Guidelines as Topic ,United States ,Voluntary Health Agencies ,Alzheimer's disease ,Methods ,Whole-slide imaging ,Multisite ,Geriatrics ,Clinical sciences ,Biological psychology - Abstract
IntroductionNeuropathologic assessment is the current "gold standard" for evaluating the Alzheimer's disease (AD), but there is no consensus on the methods used.MethodsFifteen unstained slides (8 brain regions) from each of the 14 cases were prepared and distributed to 10 different National Institute on Aging AD Centers for application of usual staining and evaluation following recently revised guidelines for AD neuropathologic change.ResultsCurrent practice used in the AD Centers Program achieved robustly excellent agreement for the severity score for AD neuropathologic change (average weighted κ = .88, 95% confidence interval: 0.77-0.95) and good-to-excellent agreement for the three supporting scores. Some improvement was observed with consensus evaluation but not with central staining of slides. Evaluation of glass slides and digitally prepared whole-slide images was comparable.DiscussionAD neuropathologic evaluation as performed across AD Centers yields data that have high agreement with potential modifications for modest improvements.
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- 2016
9. International Consortium on the Genetics of Electroconvulsive Therapy and Severe Depressive Disorders (Gen-ECT-ic)
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Soda, Takahiro, McLoughlin, Declan M., Clark, Scott R., Oltedal, Leif, Kessler, Ute, Haavik, Jan, Bousman, Chad, Smith, Daniel J., Bioque, Miquel, Clements, Caitlin C., Loo, Colleen, Vila-Rodriguez, Fidel, Minelli, Alessandra, Mickey, Brian J., Milev, Roumen, Docherty, Anna R., Langan Martin, Julie, Achtyes, Eric D., Arolt, Volker, Redlich, Ronny, Dannlowski, Udo, Cardoner, Narcis, Clare, Emily, Craddock, Nick, Di Florio, Arianna, Dmitrzak-Weglarz, Monika, Forty, Liz, Gordon-Smith, Katherine, Husain, Mustafa, Ingram, Wendy M., Jones, Lisa, Jones, Ian, Juruena, Mario, Kirov, George, Landén, Mikael, Müller, Daniel J., Nordensköld, Axel, Pålsson, Erik, Paul, Meethu, Permoda, Agnieszka, Pliszka, Bartlomiej, Rea, Jamie, Schubert, Klaus O., Sonnen, Joshua A., Soria, Virginia, Stageman, Will, Takamiya, Akihiro, Urretavizacaya, Mikel, Watson, Stuart, Zavorotny, Maxim, Young, Allan H., Vieta, Eduard, Rybakowski, Janusz K., Gennarelli, Massimo, Zandi, Peter P., Sullivan, Patrick F., and Baune, Bernhard T.
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- 2020
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10. Multiple pathologies are common and related to dementia in the oldest-old
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Kawas, Claudia H, Kim, Ronald C, Sonnen, Joshua A, Bullain, Szofia S, Trieu, Thomas, and Corrada, María M
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Acquired Cognitive Impairment ,Neurosciences ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Vascular Cognitive Impairment/Dementia ,Clinical Research ,Dementia ,Aging ,Alzheimer's Disease ,Brain Disorders ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Aged ,80 and over ,Brain ,Female ,Humans ,Logistic Models ,Longitudinal Studies ,Male ,Neuropsychological Tests ,Psychiatric Status Rating Scales ,Severity of Illness Index ,Clinical Sciences ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
ObjectiveThe purpose of this study was to examine the role of multiple pathologies in the expression of dementia in the oldest-old.MethodsA total of 183 participants of The 90+ Study with longitudinal follow-up and autopsy were included in this clinical-pathologic investigation. Eight pathologic diagnoses (Alzheimer disease [AD], microinfarcts, hippocampal sclerosis, macroinfarcts, Lewy body disease, cerebral amyloid angiopathy, white matter disease, and others) were dichotomized. We estimated the odds of dementia in relation to each individual pathologic diagnosis and to the total number of diagnoses. We also examined dementia severity in relation to number of pathologic diagnoses.ResultsThe presence of multiple pathologic diagnoses was common and occurred more frequently in those with dementia compared with those without dementia (45% vs 14%). Higher numbers of pathologic diagnoses were also associated with greater dementia severity. Participants with intermediate/high AD pathology alone were 3 times more likely to have dementia (odds ratio = 3.5), but those with single non-AD pathologies were 12 times more likely to have dementia (odds ratio = 12.4). When a second pathology was present, the likelihood of dementia increased 4-fold in those with intermediate/high AD pathology but did not change in those with non-AD pathologies, suggesting that pathologies may interrelate in different ways.ConclusionsIn the oldest-old, the presence of multiple pathologies is associated with increased likelihood and severity of dementia. The effect of the individual pathologies may be additive or perhaps synergistic and requires further research. Multiple pathologies will need to be targeted to reduce the burden of dementia in the population.
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- 2015
11. ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology
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Nelson, Peter T, Estus, Steven, Abner, Erin L, Parikh, Ishita, Malik, Manasi, Neltner, Janna H, Ighodaro, Eseosa, Wang, Wang-Xia, Wilfred, Bernard R, Wang, Li-San, Kukull, Walter A, Nandakumar, Kannabiran, Farman, Mark L, Poon, Wayne W, Corrada, Maria M, Kawas, Claudia H, Cribbs, David H, Bennett, David A, Schneider, Julie A, Larson, Eric B, Crane, Paul K, Valladares, Otto, Schmitt, Frederick A, Kryscio, Richard J, Jicha, Gregory A, Smith, Charles D, Scheff, Stephen W, Sonnen, Joshua A, Haines, Jonathan L, Pericak-Vance, Margaret A, Mayeux, Richard, Farrer, Lindsay A, Van Eldik, Linda J, Horbinski, Craig, Green, Robert C, Gearing, Marla, Poon, Leonard W, Kramer, Patricia L, Woltjer, Randall L, Montine, Thomas J, Partch, Amanda B, Rajic, Alexander J, Richmire, KatieRose, Monsell, Sarah E, Alzheimer’ Disease Genetic Consortium, Schellenberg, Gerard D, and Fardo, David W
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Biomedical and Clinical Sciences ,Neurosciences ,Neurodegenerative ,Aging ,Brain Disorders ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Genetics ,Alzheimer's Disease ,Dementia ,Human Genome ,Prevention ,Acquired Cognitive Impairment ,2.1 Biological and endogenous factors ,Neurological ,Good Health and Well Being ,Aged ,80 and over ,Cohort Studies ,Databases as Topic ,Endophenotypes ,Genome-Wide Association Study ,Hippocampus ,Humans ,Polymorphism ,Single Nucleotide ,Sclerosis ,Sulfonylurea Compounds ,Sulfonylurea Receptors ,Oldest old ,Neuropathology ,KATP ,CTAGE5 ,ADGC ,Potassium channel ,Alzheimer’ Disease Genetic Consortium ,Clinical Sciences ,Neurology & Neurosurgery - Abstract
Hippocampal sclerosis of aging (HS-Aging) is a high-morbidity brain disease in the elderly but risk factors are largely unknown. We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype. In collaboration with the Alzheimer's Disease Genetics Consortium, data were analyzed from large autopsy cohorts: (#1) National Alzheimer's Coordinating Center (NACC); (#2) Rush University Religious Orders Study and Memory and Aging Project; (#3) Group Health Research Institute Adult Changes in Thought study; (#4) University of California at Irvine 90+ Study; and (#5) University of Kentucky Alzheimer's Disease Center. Altogether, 363 HS-Aging cases and 2,303 controls, all pathologically confirmed, provided statistical power to test for risk alleles with large effect size. A two-tier study design included GWAS from cohorts #1-3 (Stage I) to identify promising SNP candidates, followed by focused evaluation of particular SNPs in cohorts #4-5 (Stage II). Polymorphism in the ATP-binding cassette, sub-family C member 9 (ABCC9) gene, also known as sulfonylurea receptor 2, was associated with HS-Aging pathology. In the meta-analyzed Stage I GWAS, ABCC9 polymorphisms yielded the lowest p values, and factoring in the Stage II results, the meta-analyzed risk SNP (rs704178:G) attained genome-wide statistical significance (p = 1.4 × 10(-9)), with odds ratio (OR) of 2.13 (recessive mode of inheritance). For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I results show OR = 1.16 for rs5848 (GRN) and OR = 1.22 rs1990622 (TMEM106B), with the risk alleles as previously described. Sulfonylureas, a widely prescribed drug class used to treat diabetes, also modify human ABCC9 protein function. A subsample of patients from the NACC database (n = 624) were identified who were older than age 85 at death with known drug history. Controlling for important confounders such as diabetes itself, exposure to a sulfonylurea drug was associated with risk for HS-Aging pathology (p = 0.03). Thus, we describe a novel and targetable dementia risk factor.
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- 2014
12. List of contributors
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Aftimos, Philippe, primary, Al-Turkmani, M. Rabie, additional, Azim, Hatem A., additional, Bastacky, Sheldon I., additional, Beenhouwer, David O., additional, Behari, Jaideep, additional, Berdasco, María, additional, Biggs, Joseph R., additional, Brandão, Mariana, additional, Campbell, Sheldon, additional, Chan, Wai-Yee, additional, Coleman, William B., additional, Corsi Romanelli, Massimiliano M., additional, Couch, Robin D., additional, Davis, Justin B., additional, Deharvengt, Sophie J., additional, Del Portillo, Armando J., additional, Espina, Virginia, additional, Esteller, Manel, additional, Farver, Carol F., additional, Feldman, Michael D., additional, Fink, Susan L., additional, Flanagan, Margaret, additional, Fredolini, Claudia, additional, Funkhouser, William K., additional, Futschik, Matthias E., additional, Galliera, Emanuela, additional, Gotlieb, Avrum I., additional, Hevner, Robert F., additional, Highsmith, W. Edward, additional, Keene, Christopher Dirk, additional, Key, Nigel S., additional, Koellner, Christine M., additional, Lefferts, Joel A., additional, Lemasters, John J., additional, Lerch, Markus M., additional, Liotta, Lance A., additional, Liu, Youhua, additional, Lu, Karen H., additional, Lukacs, Nicholas W., additional, Ma, Alice D., additional, Martin, Karlyn, additional, Mayerle, Julia, additional, Mensink, Kara A., additional, Mok, Samuel C., additional, Monga, Satdarshan P.S., additional, Montine, Thomas J., additional, Moore, Jason H., additional, Morkel, Markus, additional, Munger, Karl, additional, Nagymanyoki, Zoltan, additional, Nerenz, Robert D., additional, Pang, Alan L.-Y., additional, Petricoin, Emanuel, additional, Ptaschinski, Catherine, additional, Schäfer, Reinhold, additional, Sendler, Matthias, additional, Sepulveda, Antonia R., additional, Sers, Christine, additional, Silverman, Lawrence M., additional, Sonnen, Joshua A., additional, Sotiriou, Christos, additional, Tan, Roderick J., additional, Tsongalis, Gregory J., additional, Wessagowit, Vesarat, additional, Williams, Eli S., additional, Wong, Kwong-Kwok, additional, Zander, Dani S., additional, Zhang, Dong-Er, additional, and Zhou, Weidong, additional
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- 2020
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13. Molecular basis of diseases of the nervous system
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Flanagan, Margaret, primary, Sonnen, Joshua A., additional, Keene, Christopher Dirk, additional, Hevner, Robert F., additional, and Montine, Thomas J., additional
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- 2020
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14. LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry
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Katsumata, Yuriko, primary, Fardo, David W, additional, Shade, Lincoln M P, additional, Bowen, James D, additional, Crane, Paul K, additional, Jarvik, Gail P, additional, Keene, C Dirk, additional, Larson, Eric B, additional, McCormick, Wayne C, additional, McCurry, Susan M, additional, Mukherjee, Shubhabrata, additional, Kowall, Neil W, additional, McKee, Ann C, additional, Honig, Robert A, additional, Lawrence, S, additional, Vonsattel, Jean Paul, additional, Williamson, Jennifer, additional, Small, Scott, additional, Burke, James R, additional, Hulette, Christine M, additional, Welsh-Bohmer, Kathleen A, additional, Gearing, Marla, additional, Lah, James J, additional, Levey, Allan I, additional, Wingo, Thomas S, additional, Apostolova, Liana G, additional, Farlow, Martin R, additional, Ghetti, Bernardino, additional, Saykin, Andrew J, additional, Spina, Salvatore, additional, Albert, Marilyn S, additional, Lyketsos, Constantine G, additional, Troncoso, Juan C, additional, Frosch, Matthew P, additional, Green, Robert C, additional, Growdon, John H, additional, Hyman, Bradley T, additional, Tanzi, Rudolph E, additional, Potter, Huntington, additional, Dickson, Dennis W, additional, Ertekin-Taner, Nilufer, additional, Graff-Radford, Neill R, additional, Parisi, Joseph E, additional, Petersen, Ronald C, additional, Duara, Ranjan, additional, Buxbaum, Joseph D, additional, Goate, Alison M, additional, Sano, Mary, additional, Masurkar, Arjun V, additional, Wisniewski, Thomas, additional, Bigio, Eileen H, additional, Mesulam, Marsel, additional, Weintraub, Sandra, additional, Vassar, Robert, additional, Kaye, Jeffrey A, additional, Quinn, Joseph F, additional, Woltjer, Randall L, additional, Barnes, Lisa L, additional, Bennett, David A, additional, Schneider, Julie A, additional, Yu, Lei, additional, Henderson, Victor, additional, Fallon, Kenneth B, additional, Harrell, Lindy E, additional, Marson, Daniel C, additional, Roberson, Erik D, additional, DeCarli, Charles, additional, Jin, Lee-Way, additional, Olichney, John M, additional, Kim, Ronald, additional, LaFerla, Frank M, additional, Monuki, Edwin, additional, Head, Elizabeth, additional, Sultzer, David, additional, Geschwind, Daniel H, additional, Vinters, Harry V, additional, Chesselet, Marie-Francoise, additional, Galasko, Douglas R, additional, Brewer, James B, additional, Boxer, Adam, additional, Karydas, Anna, additional, Kramer, Joel H, additional, Miller, Bruce L, additional, Rosen, Howard J, additional, Seeley, William W, additional, Burns, Jeffrey M, additional, Swerdlow, Russell H, additional, Abner, Erin, additional, Van Eldik, Linda J, additional, Albin, Roger L, additional, Lieberman, Andrew P, additional, Paulson, Henry L, additional, Arnold, Steven E, additional, Trojanowski, John Q, additional, Van Deerlin, Vivianna M, additional, Hamilton, Ronald L, additional, Kamboh, M Ilyas, additional, Lopez, Oscar L, additional, Becker, James T, additional, Cao, Chuanhai, additional, Raj, Ashok, additional, Smith, Amanda G, additional, Chui, Helena C, additional, Miller, Carol A, additional, Ringman, John M, additional, Schneider, Lon S, additional, Bird, Thomas D, additional, Sonnen, Joshua A, additional, Yu, Chang-En, additional, Grabowski, Thomas, additional, Peskind, Elaine, additional, Raskind, Murray, additional, Li, Ge, additional, Tsuang, Debby W, additional, Asthana, Sanjay, additional, Atwood, Craig S, additional, Carlsson, Cynthia M, additional, Sager, Mark A, additional, Chin, Nathaniel A, additional, Craft, Suzanne, additional, Cairns, Nigel J, additional, Morris, John C, additional, Cruchaga, Carlos, additional, Strittmatter, Stephen, additional, Reiman, Eric M, additional, Beach, Thomas G, additional, Huentelman, Matthew J, additional, Hardy, John, additional, Myers, Amanda J, additional, Kauwe, John S K, additional, Hakonarson, Hakon, additional, Blacker, Deborah, additional, Montine, Thomas J, additional, Baldwin, Clinton T, additional, Farrer, Lindsay A, additional, Jun, Gyungah, additional, Lunetta, Kathryn L, additional, Bush, William S, additional, Haines, Jonathan L, additional, Lerner, Alan J, additional, Zhou, Xiongwei, additional, Barral, Sandra, additional, Reitz, Christiane, additional, Vardarajan, Badri N, additional, Mayeux, Richard, additional, Beecham, Gary W, additional, Carney, Regina M, additional, Cuccaro, Michael L, additional, Gilbert, John R, additional, Hamilton-Nelson, Kara L, additional, Kunkle, Brian W, additional, Martin, Eden R, additional, Pericak-Vance, Margaret A, additional, Vance, Jeffery M, additional, Cantwell, Laura B, additional, Kuzma, Amanda P, additional, Malamon, John, additional, Naj, Adam C, additional, Qu, Liming, additional, Schellenberg, Gerard D, additional, Valladares, Otto, additional, Wang, Li-San, additional, Zhao, Yi, additional, Leverenz, James B, additional, De Jager, Philip L, additional, Evans, Denis A, additional, Katz, Mindy J, additional, Lipton, Richard B, additional, Boeve, Bradley F, additional, Allen, Mariet, additional, Carrasquillo, Minerva M, additional, Younkin, Steven G, additional, Kukull, Walter A, additional, Faber, Kelley M, additional, Foroud, Tatiana M, additional, Pavlik, Valory, additional, Massman, Paul, additional, Darby, Eveleen, additional, Rodriguear, Monica, additional, Khaleeq, Aisha, additional, Royall, Donald R, additional, Stevens, Alan, additional, Ory, Marcia, additional, DeToledo, John C, additional, Wilms, Henrick, additional, Johnson, Kim, additional, Perez, Victoria, additional, Hernandez, Michelle, additional, Wilhelmsen, Kirk C, additional, Tilson, Jeffrey, additional, Chasse, Scott, additional, Barber, Robert C, additional, Fairchild, Thomas J, additional, O’Bryant, Sid E, additional, Knebl, Janice, additional, Hall, James R, additional, Johnson, Leigh, additional, Mains, Douglas, additional, Alvarez, Lisa, additional, Gamboa, Adriana, additional, Paydarfar, David, additional, Bertelson, John, additional, Woon, Martin, additional, Ayres, Gayle, additional, Aguirre, Alyssa, additional, Palmer, Raymond, additional, Polk, Marsha, additional, Adams, Perrie M, additional, Huebinger, Ryan M, additional, Reisch, Joan S, additional, Rosenberg, Roger N, additional, Cullum, Munro, additional, Williams, Benjamin, additional, Quiceno, Mary, additional, Hynan, Linda, additional, Smith, Janet, additional, Davis, Barb, additional, Nguyen, Trung, additional, Rogaeva, Ekaterina, additional, George-Hyslop, Peter St, additional, and Nelson, Peter T, additional
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- 2023
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15. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifiesLRRC4C, LHX5-AS1and nominates ancestry-specific lociPTPRK,GRB14, andKIAA0825as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium
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Rajabli, Farid, primary, Benchek, Penelope, additional, Tosto, Giuseppe, additional, Kushch, Nicholas, additional, Sha, Jin, additional, Bazemore, Katrina, additional, Zhu, Congcong, additional, Lee, Wan-Ping, additional, Haut, Jacob, additional, Hamilton-Nelson, Kara L., additional, Wheeler, Nicholas R., additional, Zhao, Yi, additional, Farrell, John J., additional, Grunin, Michelle A., additional, Leung, Yuk Yee, additional, Kuksa, Pavel P., additional, Li, Donghe, additional, Lucio da Fonseca, Eder, additional, Mez, Jesse B., additional, Palmer, Ellen L., additional, Pillai, Jagan, additional, Sherva, Richard M., additional, Song, Yeunjoo E., additional, Zhang, Xiaoling, additional, Iqbal, Taha, additional, Pathak, Omkar, additional, Valladares, Otto, additional, Kuzma, Amanda B., additional, Abner, Erin, additional, Adams, Perrie M., additional, Aguirre, Alyssa, additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Allen, Mariet, additional, Alvarez, Lisa, additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Asthana, Sanjay, additional, Atwood, Craig S., additional, Ayres, Gayle, additional, Baldwin, Clinton T., additional, Barber, Robert C., additional, Barnes, Lisa L., additional, Barral, Sandra, additional, Beach, Thomas G., additional, Becker, James T., additional, Beecham, Gary W., additional, Beekly, Duane, additional, Benitez, Bruno A., additional, Bennett, David, additional, Bertelson, John, additional, Bird, Thomas D., additional, Blacker, Deborah, additional, Boeve, Bradley F., additional, Bowen, James D., additional, Boxer, Adam, additional, Brewer, James, additional, Burke, James R., additional, Burns, Jeffrey M., additional, Buxbaum, Joseph D., additional, Cairns, Nigel J., additional, Cantwell, Laura B., additional, Cao, Chuanhai, additional, Carlson, Christopher S., additional, Carlsson, Cynthia M., additional, Carney, Regina M., additional, Carrasquillo, Minerva M., additional, Chasse, Scott, additional, Chesselet, Marie-Francoise, additional, Chin, Nathaniel A., additional, Chui, Helena C., additional, Chung, Jaeyoon, additional, Craft, Suzanne, additional, Crane, Paul K., additional, Cribbs, David H., additional, Crocco, Elizabeth A., additional, Cruchaga, Carlos, additional, Cuccaro, Michael L., additional, Cullum, Munro, additional, Darby, Eveleen, additional, Davis, Barbara, additional, De Jager, Philip L., additional, DeCarli, Charles, additional, DeToledo, John, additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Dombroski, Beth A., additional, Doody, Rachelle S., additional, Duara, Ranjan, additional, Ertekin-Taner, NIlüfer, additional, Evans, Denis A., additional, Faber, Kelley M., additional, Fairchild, Thomas J., additional, Fallon, Kenneth B., additional, Fardo, David W., additional, Farlow, Martin R., additional, Fernandez-Hernandez, Victoria, additional, Ferris, Steven, additional, Foroud, Tatiana M., additional, Frosch, Matthew P., additional, Fulton-Howard, Brian, additional, Galasko, Douglas R., additional, Gamboa, Adriana, additional, Gearing, Marla, additional, Geschwind, Daniel H., additional, Ghetti, Bernardino, additional, Gilbert, John R., additional, Goate, Alison M., additional, Grabowski, Thomas J., additional, Graff-Radford, Neill R., additional, Green, Robert C., additional, Growdon, John H., additional, Hakonarson, Hakon, additional, Hall, James, additional, Hamilton, Ronald L., additional, Harari, Oscar, additional, Hardy, John, additional, Harrell, Lindy E., additional, Head, Elizabeth, additional, Henderson, Victor W., additional, Hernandez, Michelle, additional, Hohman, Timothy, additional, Honig, Lawrence S., additional, Huebinger, Ryan M., additional, Huentelman, Matthew J., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Hynan, Linda S., additional, Ibanez, Laura, additional, Jarvik, Gail P., additional, Jayadev, Suman, additional, Jin, Lee-Way, additional, Johnson, Kim, additional, Johnson, Leigh, additional, Kamboh, M. Ilyas, additional, Karydas, Anna M., additional, Katz, Mindy J., additional, Kauwe, John S., additional, Kaye, Jeffrey A., additional, Keene, C. Dirk, additional, Khaleeq, Aisha, additional, Kim, Ronald, additional, Knebl, Janice, additional, Kowall, Neil W., additional, Kramer, Joel H., additional, Kukull, Walter A., additional, LaFerla, Frank M., additional, Lah, James J., additional, Larson, Eric B., additional, Lerner, Alan, additional, Leverenz, James B., additional, Levey, Allan I., additional, Lieberman, Andrew P., additional, Lipton, Richard B., additional, Logue, Mark, additional, Lopez, Oscar L., additional, Lunetta, Kathryn L., additional, Lyketsos, Constantine G., additional, Mains, Douglas, additional, Margaret, Flanagan E., additional, Marson, Daniel C., additional, Martin, Eden R R., additional, Martiniuk, Frank, additional, Mash, Deborah C., additional, Masliah, Eliezer, additional, Massman, Paul, additional, Masurkar, Arjun, additional, McCormick, Wayne C., additional, McCurry, Susan M., additional, McDavid, Andrew N., additional, McDonough, Stefan, additional, McKee, Ann C., additional, Mesulam, Marsel, additional, Miller, Bruce L., additional, Miller, Carol A., additional, Miller, Joshua W., additional, Montine, Thomas J., additional, Monuki, Edwin S., additional, Morris, John C., additional, Mukherjee, Shubhabrata, additional, Myers, Amanda J., additional, Nguyen, Trung, additional, O’Bryant, Sid, additional, Olichney, John M., additional, Ory, Marcia, additional, Palmer, Raymond, additional, Parisi, Joseph E., additional, Paulson, Henry L., additional, Pavlik, Valory, additional, Paydarfar, David, additional, Perez, Victoria, additional, Peskind, Elaine, additional, Petersen, Ronald C., additional, Pierce, Aimee, additional, Polk, Marsha, additional, Poon, Wayne W., additional, Potter, Huntington, additional, Qu, Liming, additional, Quiceno, Mary, additional, Quinn, Joseph F., additional, Raj, Ashok, additional, Raskind, Murray, additional, Reiman, Eric M., additional, Reisberg, Barry, additional, Reisch, Joan S., additional, Ringman, John M., additional, Roberson, Erik D., additional, Rodriguear, Monica, additional, Rogaeva, Ekaterina, additional, Rosen, Howard J., additional, Rosenberg, Roger N., additional, Royall, Donald R., additional, Sager, Mark A., additional, Sano, Mary, additional, Saykin, Andrew J., additional, Schneider, Julie A., additional, Schneider, Lon S., additional, Seeley, William W., additional, Slifer, Susan H., additional, Small, Scott, additional, Smith, Amanda G., additional, Smith, Janet P., additional, Sonnen, Joshua A., additional, Spina, Salvatore, additional, St George-Hyslop, Peter, additional, Stern, Robert A., additional, Stevens, Alan B., additional, Strittmatter, Stephen M., additional, Sultzer, David, additional, Swerdlow, Russell H., additional, Tanzi, Rudolph E., additional, Tilson, Jeffrey L., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Tsuang, Debby W., additional, Van Deerlin, Vivianna M., additional, van Eldik, Linda J., additional, Vance, Jeffery M., additional, Vardarajan, Badri N., additional, Vassar, Robert, additional, Vinters, Harry V., additional, Vonsattel, Jean-Paul, additional, Weintraub, Sandra, additional, Welsh-Bohmer, Kathleen A., additional, Whitehead, Patrice L., additional, Wijsman, Ellen M., additional, Wilhelmsen, Kirk C., additional, Williams, Benjamin, additional, Williamson, Jennifer, additional, Wilms, Henrik, additional, Wingo, Thomas S., additional, Wisniewski, Thomas, additional, Woltjer, Randall L., additional, Woon, Martin, additional, Wright, Clinton B., additional, Wu, Chuang-Kuo, additional, Younkin, Steven G., additional, Yu, Chang-En, additional, Yu, Lei, additional, Zhu, Xiongwei, additional, Kunkle, Brian W., additional, Bush, William S., additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, Haines, Jonathan L., additional, Mayeux, Richard, additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Jun, Gyungah R., additional, Reitz, Christiane, additional, and Naj, Adam C., additional
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- 2023
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16. Transethnic genome-wide scan identifies novel Alzheimer's disease loci
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Adams, Perrie M., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Barmada, Michjael M., Barnes, Lisa L., Beach, Thomas G., Becker, James T., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Bowen, James D., Boxer, Adam, Burke, James R., Cairns, Nigel J., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, DeKosky, Steven T., Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Doody, Rachelle S., Duara, Ranjan, Ertekin-Taner, Nilufer, Faber, Kelley M., Fairchild, Thomas J., Fallon, Kenneth B., Farlow, Martin R., Ferris, Steven, Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Glass, Jonathan D., Graff-Radford, Neill R., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton, Ronald L., Hardy, John, Harrell, Lindy E., Head, Elizabeth, Honig, Lawrence S., Huebinger, Ryan M., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Karydas, Anna, Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Koo, Edward H., Kowall, Neil W., Kramer, Joel H., LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lopez, Oscar L., Lyketsos, Constantine G., Mack, Wendy J., Marson, Daniel C., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Morris, John C., Mukherjee, Shubhabrata, Murrell, Jill R., Myers, Amanda J., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reisberg, Barry, Reisch, Joan S., Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Wu, Chuang-Kuo, Yu, Chang-En, Yu, Lei, Zhang, Xiaoling, Jun, Gyungah R., Chung, Jaeyoon, Mez, Jesse, Barber, Robert, Beecham, Gary W., Bennett, David A., Buxbaum, Joseph D., Byrd, Goldie S., Crane, Paul K., De Jager, Philip, Evans, Denis, Fallin, M. Danielle, Foroud, Tatiana M., Friedland, Robert P., Goate, Alison M., Hendrie, Hugh, Hall, Kathleen S., Hamilton-Nelson, Kara L., Inzelberg, Rivka, Kamboh, M. Ilyas, Kukull, Walter A., Kunkle, Brian W., Kuwano, Ryozo, Larson, Eric B., Logue, Mark W., Manly, Jennifer J., Martin, Eden R., Montine, Thomas J., Naj, Adam, Reiman, Eric M., Sherva, Richard, St. George-Hyslop, Peter H., Thornton, Timothy, Younkin, Steven G., Wang, Li-San, Wendlund, Jens R., Winslow, Ashley R., Haines, Jonathan, Mayeux, Richard, Pericak-Vance, Margaret A., Schellenberg, Gerard, Lunetta, Kathryn L., and Farrer, Lindsay A.
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- 2017
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17. Glucose levels during life and neuropathologic findings at autopsy among people never treated for diabetes
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Crane, Paul K., Walker, Rod L., Sonnen, Joshua, Gibbons, Laura E., Melrose, Rebecca, Hassenstab, Jason, Keene, C. Dirk, Postupna, Nadia, Montine, Thomas J., and Larson, Eric B.
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- 2016
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18. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting
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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. Daniele, Fallon, Kenneth B., Fardo, David W., Farlow, Martin R., Farrer, Lindsay A., Ferris, Steven, Foroud, Tatiana M., Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Go, Rodney C.P., Goate, Alison M., Graff-Radford, Neill R., Green, Robert C., Griffith, Patrick, Growdon, John H., Haines, Jonathan L., Hakonarson, Hakon, Hamilton, Ronald L., Hamilton-Nelson, Kara L., Haroutunian, Vahram, Harrell, Lindy E., Honig, Lawrence S., Huebinger, Ryan M., Hulette, Christine M., Hyman, Bradley T., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Kowall, Neil W., Kramer, Joel H., Kukull, Walter A., Kunkle, Brian W., LaFerla, Frank M., Lah, James J., Lang-Walker, Rosalyn, Larson, Eric B., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Logue, Mark W., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Manly, Jennifer J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, Mayeux, Richard, McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Murrell, Jill R., Naj, Adam C., Obisesan, Thomas O., Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Pericak-Vance, Margaret A., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raj, Towfique, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rosen, Howard J., Rosenberg, Roger N., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schellenberg, Gerard D., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Wang, Li-San, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wingo, Thomas S., Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Younkin, Steven G., Yu, Chang-En, Yu, Lei, Chauhan, Ganesh, Chu, Audrey Y., Fornage, Myriam, Bis, Joshua C., Havulinna, Aki S., Sargurupremraj, Muralidharan, Smith, Albert Vernon, Adams, Hieab H.H., Choi, Seung Hoan, Trompet, Stella, Garcia, Melissa E., Manichaikul, Ani, Teumer, Alexander, Gustafsson, Stefan, Bartz, Traci M., Bellenguez, Céline, Vidal, Jean Sebastien, Jian, Xueqiu, Kjartansson, Olafur, Wiggins, Kerri L., Satizabal, Claudia L., Xue, Flora, Ripatti, Samuli, Liu, Yongmei, Deelen, Joris, Hoed, Marcel den, Heckbert, Susan R., Rice, Kenneth, Smith, Nicholas L., Wong, Quenna, Aparicio, Hugo J., Buring, Julie E., Ridker, Paul M, Berr, Claudine, Dartigues, Jean-François, Hamsten, Anders, Magnusson, Patrik K., Pedersen, Nancy L., Lannfelt, Lars, Lind, Lars, Lindgren, Cecilia M., Morris, Andrew P., Hofman, Albert, Koudstaal, Peter J., Portegies, Marileen LP., Uitterlinden, André G., de Craen, Anton JM, Ford, Ian, Jukema, J. Wouter, Stott, David J, Allen, Norrina B., Sale, Michele M., Johnson, Andrew D, Bennett, David A., De Jager, Philip L., White, Charles C., Grabe, Hans Jörgen, Paulista Markus, Marcello Ricardo, Lopez, Oscar L, Rotter, Jerome I., Nalls, Michael A., Gottesman, Rebecca F., Griswold, Michael E., Knopman, David S., Windham, B. Gwen, Beiser, Alexa, Vartiainen, Erkki, French, Curtis R., Kurth, Tobias, Psaty, Bruce M., Harris, Tamara B., Rich, Stephen S, deStefano, Anita L., Schmidt, Carsten Oliver, Salomaa, Veikko, Mosley, Thomas H., Ingelsson, Erik, van Duijn, Cornelia M., Tzourio, Christophe, Launer, Lenore J, Ikram, M. Arfan, Chasman, Daniel I., Longstreth, W. T., Jr, Seshadri, Sudha, Debette, Stéphanie, Verhaaren, Benjamin F.J., Debette, Stéphanie, Bis, Joshua C., Smith, Jennifer A., Ikram, M. Kamran, Adams, Hieab H., Beecham, Ashley H., Rajan, Kumar B., Lopez, Lorna M., Barral, Sandra, van Buchem, Mark A., van der Grond, Jeroen, Smith, Albert V., Hegenscheid, Katrin, Aggarwal, Neelum T., de Andrade, Mariza, Atkinson, Elizabeth J., Beekman, Marian, Beiser, Alexa S., Blanton, Susan H., Boerwinkle, Eric, Brickman, Adam M., Bryan, R. Nick, Chauhan, Ganesh, Chen, Christopher P.L.H., Chouraki, Vincent, de Craen, Anton J.M., Crivello, Fabrice, Deary, Ian J., Deelen, Joris, De Jager, Philip L., Dufouil, Carole, Elkind, Mitchell S.V., Evans, Denis A., Freudenberger, Paul, Gottesman, Rebecca F., Guðnason, Vilmundur, Habes, Mohamad, Heckbert, Susan R., Heiss, Gerardo, Hilal, Saima, Hofer, Edith, Hofman, Albert, Ibrahim-Verbaas, Carla A., Knopman, David S., Lewis, Cora E., Liao, Jiemin, Liewald, David C.M., Luciano, Michelle, van der Lugt, Aad, Martinez, Oliver O., Mayeux, Richard, Mazoyer, Bernard, Nalls, Mike, Nauck, Matthias, Niessen, Wiro J., Oostra, Ben A., Psaty, Bruce M., Rice, Kenneth M., Rotter, Jerome I., von Sarnowski, Bettina, Schmidt, Helena, Schreiner, Pamela J., Schuur, Maaike, Sidney, Stephen S., Sigurdsson, Sigurdur, Slagboom, P. Eline, Stott, David J.M., van Swieten, John C., Teumer, Alexander, Töglhofer, Anna Maria, Traylor, Matthew, Trompet, Stella, Turner, Stephen T., Tzourio, Christophe, Uh, Hae-Won, Uitterlinden, André G., Vernooij, Meike W., Wang, Jing J., Wong, Tien Y., Wardlaw, Joanna M., Windham, B. Gwen, Wittfeld, Katharina, Wolf, Christiane, Wright, Clinton B., Yang, Qiong, Zhao, Wei, Zijdenbos, Alex, Jukema, J. Wouter, Sacco, Ralph L., Kardia, Sharon L.R., Amouyel, Philippe, Mosley, Thomas H., Longstreth, W. T., Jr, DeCarli, Charles C., van Duijn, Cornelia M., Schmidt, Reinhold, Launer, Lenore J., Grabe, Hans J., Seshadri, Sudha S., Ikram, M. Arfan, Fornage, Myriam, Bis, Joshua C., Kavousi, Maryam, Franceschini, Nora, Isaacs, Aaron, Abecasis, Gonçalo R, Schminke, Ulf, Post, Wendy, Smith, Albert V., Cupples, L. Adrienne, Markus, Hugh S, Schmidt, Reinhold, Huffman, Jennifer E., Lehtimäki, Terho, Baumert, Jens, Münzel, Thomas, Heckbert, Susan R., Dehghan, Abbas, North, Kari, Oostra, Ben, Bevan, Steve, Stoegerer, Eva-Maria, Hayward, Caroline, Raitakari, Olli, Meisinger, Christa, Schillert, Arne, Sanna, Serena, Völzke, Henry, Cheng, Yu-Ching, Thorsson, Bolli, Fox, Caroline S., Rice, Kenneth, Rivadeneira, Fernando, Nambi, Vijay, Halperin, Eran, Petrovic, Katja E., Peltonen, Leena, Wichmann, H. Erich, Schnabel, Renate B., Dörr, Marcus, Parsa, Afshin, Aspelund, Thor, Demissie, Serkalem, Kathiresan, Sekar, Reilly, Muredach P., Taylor, Kent, Uitterlinden, Andre, Couper, David J., Sitzer, Matthias, Kähönen, Mika, Illig, Thomas, Wild, Philipp S., Orru, Marco, Lüdemann, Jan, Shuldiner, Alan R., Eiriksdottir, Gudny, White, Charles C., Rotter, Jerome I., Hofman, Albert, Seissler, Jochen, Zeller, Tanja, Usala, Gianluca, Ernst, Florian, Launer, Lenore J., DʼAgostino, Ralph B., Sr, OʼLeary, Daniel H., Ballantyne, Christie, Thiery, Joachim, Ziegler, Andreas, Lakatta, Edward G., Chilukoti, Ravi Kumar, Harris, Tamara B., Wolf, Philip A., Psaty, Bruce M., Polak, Joseph F, Li, Xia, Rathmann, Wolfgang, Uda, Manuela, Boerwinkle, Eric, Klopp, Norman, Schmidt, Helena, Wilson, James F, Viikari, Jorma, Koenig, Wolfgang, Blankenberg, Stefan, Newman, Anne B., Witteman, Jacqueline, Heiss, Gerardo, van Duijn, Cornelia, Scuteri, Angelo, Homuth, Georg, Mitchell, Braxton D., Gudnason, Vilmundur, and O’Donnell, Christopher J.
- Published
- 2019
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19. Molecular Basis of Diseases of the Nervous System
- Author
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Flanagan, Margaret, primary, Sonnen, Joshua A., additional, Keene, Christopher Dirk, additional, Hevner, Robert F., additional, and Montine, Thomas J., additional
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- 2018
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20. List of Contributors
- Author
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Aftimos, Philippe, primary, Azim, Hatem A., additional, Bastacky, Sheldon I., additional, Beenhouwer, David O., additional, Behari, Jaideep, additional, Biggs, Joseph R., additional, Campbell, Sheldon, additional, Chan, Wai-Yee, additional, Coleman, William B., additional, Corsi Romanelli, Massimiliano M., additional, Couch, Robin D., additional, Davis, Justin B., additional, Deharvengt, Sophie J., additional, Del Portillo, Armando J., additional, Espina, Virginia, additional, Esteller, Manel, additional, Farver, Carol F., additional, Feldman, Michael D., additional, Fink, Susan L., additional, Flanagan, Margaret, additional, Fredolini, Claudia, additional, Funkhouser, William K., additional, Futschik, Matthias E., additional, Galliera, Emanuela, additional, Gotlieb, Avrum I., additional, Hevner, Robert F., additional, Edward Highsmith, W., additional, Keene, Christopher Dirk, additional, Key, Nigel S., additional, Koellner, Christine M., additional, Lemasters, John J., additional, Lerch, Markus M., additional, Liotta, Lance A., additional, Liu, Youhua, additional, Lu, Karen H., additional, Lukacs, Nicholas W., additional, Ma, Alice D., additional, Martin, Karlyn, additional, Mayerle, Julia, additional, Mensink, Kara A., additional, Mok, Samuel C., additional, Monga, Satdarshan P.S., additional, Montine, Thomas J., additional, Moore, Jason H., additional, Morkel, Markus, additional, Munger, Karl, additional, Nagymanyoki, Zoltan, additional, Nerenz, Robert D., additional, Pang, Alan L.-Y., additional, Petricoin, Emanuel, additional, Ptaschinski, Catherine, additional, Schäfer, Reinhold, additional, Sendler, Matthias, additional, Sepulveda, Antonia R., additional, Sers, Christine, additional, Silverman, Lawrence M., additional, Sonnen, Joshua A., additional, Sotiriou, Christos, additional, Tan, Roderick J., additional, Tsongalis, Gregory J., additional, Wessagowit, Vesarat, additional, Williams, Eli S., additional, Wong, Kwong-Kwok, additional, Zander, Dani S., additional, Zhang, Dong-Er, additional, and Zhou, Weidong, additional
- Published
- 2018
- Full Text
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21. The contribution of the rs55705857 G allele to familial cancer risk as estimated in the Utah population database
- Author
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Hummel, Sarah, Kohlmann, Wendy, Kollmeyer, Thomas M., Jenkins, Robert, Sonnen, Joshua, Palmer, Cheryl A., Colman, Howard, Abbott, Diana, Cannon-Albright, Lisa, and Cohen, Adam L.
- Published
- 2019
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22. Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids
- Author
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Tamaki, Yoshitaka, primary, Ross, Jay P., additional, Alipour, Paria, additional, Castonguay, Charles-Étienne, additional, Li, Boting, additional, Catoire, Helene, additional, Rochefort, Daniel, additional, Urushitani, Makoto, additional, Takahashi, Ryosuke, additional, Sonnen, Joshua A., additional, Stifani, Stefano, additional, Dion, Patrick A., additional, and Rouleau, Guy A., additional
- Published
- 2023
- Full Text
- View/download PDF
23. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
- Author
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Pellerin, David, primary, Danzi, Matt C., additional, Wilke, Carlo, additional, Renaud, Mathilde, additional, Fazal, Sarah, additional, Dicaire, Marie-Josée, additional, Scriba, Carolin K., additional, Ashton, Catherine, additional, Yanick, Christopher, additional, Beijer, Danique, additional, Rebelo, Adriana, additional, Rocca, Clarissa, additional, Jaunmuktane, Zane, additional, Sonnen, Joshua A., additional, Larivière, Roxanne, additional, Genís, David, additional, Molina Porcel, Laura, additional, Choquet, Karine, additional, Sakalla, Rawan, additional, Provost, Sylvie, additional, Robertson, Rebecca, additional, Allard-Chamard, Xavier, additional, Tétreault, Martine, additional, Reiling, Sarah J., additional, Nagy, Sara, additional, Nishadham, Vikas, additional, Purushottam, Meera, additional, Vengalil, Seena, additional, Bardhan, Mainak, additional, Nalini, Atchayaram, additional, Chen, Zhongbo, additional, Mathieu, Jean, additional, Massie, Rami, additional, Chalk, Colin H., additional, Lafontaine, Anne-Louise, additional, Evoy, François, additional, Rioux, Marie-France, additional, Ragoussis, Jiannis, additional, Boycott, Kym M., additional, Dubé, Marie-Pierre, additional, Duquette, Antoine, additional, Houlden, Henry, additional, Ravenscroft, Gianina, additional, Laing, Nigel G., additional, Lamont, Phillipa J., additional, Saporta, Mario A., additional, Schüle, Rebecca, additional, Schöls, Ludger, additional, La Piana, Roberta, additional, Synofzik, Matthis, additional, Zuchner, Stephan, additional, and Brais, Bernard, additional
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- 2023
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24. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
- Author
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Kunkle, Brian W., Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C., Damotte, Vincent, Naj, Adam C., Boland, Anne, Vronskaya, Maria, van der Lee, Sven J., Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R., Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L., Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B., Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N., Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W., Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L., Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V., Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C., Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T., Adams, Hieab H., Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A., Dombroski, Beth A., Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B., Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S., Meslage, Stéphane, Kornhuber, Johannes, White, Charles C., Song, Yuenjoo, Barber, Robert C., Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M., Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L. Adrienne, Albert, Marilyn S., De Deyn, Peter P., Gu, Wei, Himali, Jayanadra J., Beekly, Duane, Squassina, Alessio, Hartmann, Annette M., Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E., Doody, Rachelle S., Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J., Benito, Yolanda A., Holmes, Clive, Karamujić-Čomić, Hata, Frosch, Matthew P., Thonberg, Hakan, Maier, Wolfgang, Roshchupkin, Gennady, Ghetti, Bernardino, Giedraitis, Vilmantas, Kawalia, Amit, Li, Shuo, Huebinger, Ryan M., Kilander, Lena, Moebus, Susanne, Hernández, Isabel, Kamboh, M. Ilyas, Brundin, RoseMarie, Turton, James, Yang, Qiong, Katz, Mindy J., Concari, Letizia, Lord, Jenny, Beiser, Alexa S., Keene, C. Dirk, Helisalmi, Seppo, Kloszewska, Iwona, Kukull, Walter A., Koivisto, Anne Maria, Lynch, Aoibhinn, Tarraga, Lluís, Larson, Eric B., Haapasalo, Annakaisa, Lawlor, Brian, Mosley, Thomas H., Lipton, Richard B., Solfrizzi, Vincenzo, Gill, Michael, Longstreth, Jr, W. T., Montine, Thomas J., Frisardi, Vincenza, Diez-Fairen, Monica, Rivadeneira, Fernando, Petersen, Ronald C., Deramecourt, Vincent, Alvarez, Ignacio, Salani, Francesca, Ciaramella, Antonio, Boerwinkle, Eric, Reiman, Eric M., Fievet, Nathalie, Rotter, Jerome I., Reisch, Joan S., Hanon, Olivier, Cupidi, Chiara, Uitterlinden, A. G. Andre, Royall, Donald R., Dufouil, Carole, Maletta, Raffaele Giovanni, de Rojas, Itziar, Sano, Mary, Brice, Alexis, Cecchetti, Roberta, George-Hyslop, Peter St, Ritchie, Karen, Tsolaki, Magda, Tsuang, Debby W., Dubois, Bruno, Craig, David, Wu, Chuang-Kuo, Soininen, Hilkka, Avramidou, Despoina, Albin, Roger L., Fratiglioni, Laura, Germanou, Antonia, Apostolova, Liana G., Keller, Lina, Koutroumani, Maria, Arnold, Steven E., Panza, Francesco, Gkatzima, Olymbia, Asthana, Sanjay, Hannequin, Didier, Whitehead, Patrice, Atwood, Craig S., Caffarra, Paolo, Hampel, Harald, Quintela, Inés, Carracedo, Ángel, Lannfelt, Lars, Rubinsztein, David C., Barnes, Lisa L., Pasquier, Florence, Frölich, Lutz, Barral, Sandra, McGuinness, Bernadette, Beach, Thomas G., Johnston, Janet A., Becker, James T., Passmore, Peter, Bigio, Eileen H., Schott, Jonathan M., Bird, Thomas D., Warren, Jason D., Boeve, Bradley F., Lupton, Michelle K., Bowen, James D., Proitsi, Petra, Boxer, Adam, Powell, John F., Burke, James R., Kauwe, John S. K., Burns, Jeffrey M., Mancuso, Michelangelo, Buxbaum, Joseph D., Bonuccelli, Ubaldo, Cairns, Nigel J., McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris S., Bass, Nicholas J., Carlsson, Cynthia M., Hardy, John, Carney, Regina M., Bras, Jose, Carrasquillo, Minerva M., Guerreiro, Rita, Allen, Mariet, Chui, Helena C., Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth A., DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill R., Evans, Denis A., Hodges, Angela, Faber, Kelley M., Scherer, Martin, Fallon, Kenneth B., Riemenschneider, Matthias, Fardo, David W., Heun, Reinhard, Farlow, Martin R., Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana M., Heuser, Isabella, Galasko, Douglas R., Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel H., Gilbert, John R., Morris, John, Green, Robert C., Mayo, Kevin, Growdon, John H., Feulner, Thomas, Hamilton, Ronald L., Harrell, Lindy E., Drichel, Dmitriy, Honig, Lawrence S., Cushion, Thomas D., Huentelman, Matthew J., Hollingworth, Paul, Hulette, Christine M., Hyman, Bradley T., Marshall, Rachel, Jarvik, Gail P., Meggy, Alun, Abner, Erin, Menzies, Georgina E., Jin, Lee-Way, Leonenko, Ganna, Real, Luis M., Jun, Gyungah R., Baldwin, Clinton T., Grozeva, Detelina, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey A., Kim, Ronald, Jessen, Frank, Kowall, Neil W., Vellas, Bruno, Kramer, Joel H., Vardy, Emma, LaFerla, Frank M., Jöckel, Karl-Heinz, Lah, James J., Dichgans, Martin, Leverenz, James B., Mann, David, Levey, Allan I., Pickering-Brown, Stuart, Lieberman, Andrew P., Klopp, Norman, Lunetta, Kathryn L., Wichmann, H-Erich, Lyketsos, Constantine G., Morgan, Kevin, Marson, Daniel C., Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah C., Nöthen, Markus M., Masliah, Eliezer, Hooper, Nigel M., McCormick, Wayne C., Daniele, Antonio, McCurry, Susan M., Bayer, Anthony, McDavid, Andrew N., Gallacher, John, McKee, Ann C., van den Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce L., Riedel-Heller, Steffi, Miller, Carol A., Miller, Joshua W., Al-Chalabi, Ammar, Morris, John C., Shaw, Christopher E., Myers, Amanda J., Wiltfang, Jens, O’Bryant, Sid, Olichney, John M., Alvarez, Victoria, Parisi, Joseph E., Singleton, Andrew B., Paulson, Henry L., Collinge, John, Perry, William R., Mead, Simon, Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Ryan, Natalie S., Poon, Wayne W., Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph F., Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria Donata, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A David, Ringman, John M., Warden, Donald, Roberson, Erik D., Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia Cecilia, Rosen, Howard J., Gallo, Maura, Rosenberg, Roger N., Ben-Shlomo, Yoav, Sager, Mark A., Mecocci, Patrizia, Saykin, Andrew J., Pastor, Pau, Cuccaro, Michael L., Vance, Jeffery M., Schneider, Julie A., Schneider, Lori S., Slifer, Susan, Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tang, Mitchell, Tanzi, Rudolph E., Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Saba, Yasaman, Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Pilotto, Alberto, Bullido, Maria J., Peters, Oliver, Crane, Paul K., Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, De Jager, Phil L., Lleo, Alberto, Warner, Nick, Lopez, Oscar L., Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison M., Sanchez-Juan, Pascual, Kehoe, Patrick G., Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore J., Younkin, Steven G., Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M. Arfan, Dickson, Dennis W., Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, O’Donovan, Michael C., DeStefano, Anita L., Jones, Lesley, Haines, Jonathan L., Deleuze, Jean-Francois, Owen, Michael J., Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina, Psaty, Bruce M., Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, van Duijn, Cornelia M., Holmans, Peter A., Seshadri, Sudha, Williams, Julie, Amouyel, Phillippe, Schellenberg, Gerard D., Lambert, Jean-Charles, and Pericak-Vance, Margaret A.
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- 2019
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25. Regional and age‐related diversity of human mature oligodendrocytes
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Yaqubi, Moein, primary, Luo, Julia Xiao Xuan, additional, Baig, Salma, additional, Cui, Qiao‐Ling, additional, Petrecca, Kevin, additional, Desu, Haritha, additional, Larochelle, Catherine, additional, Afanasiev, Elia, additional, Hall, Jeffery A., additional, Dudley, Roy, additional, Srour, Myriam, additional, Haglund, Lisbet, additional, Ouellet, Jean, additional, Georgiopoulos, Miltiadis, additional, Santaguida, Carlo, additional, Sonnen, Joshua A., additional, Healy, Luke M., additional, Stratton, Jo Anne, additional, Kennedy, Timothy E., additional, and Antel, Jack P., additional
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- 2022
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26. Amyloid-PET in cerebral amyloid angiopathy: Detecting vascular amyloid deposits, not just blood
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Raposo, Nicolas and Sonnen, Joshua A.
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- 2017
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27. Analysis of the microglia transcriptome across the human lifespan using single cell RNA sequencing.
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Yaqubi, Moein, Groh, Adam M. R., Dorion, Marie-France, Afanasiev, Elia, Luo, Julia Xiao Xuan, Hashemi, Hadi, Sinha, Sarthak, Kieran, Nicholas W., Blain, Manon, Cui, Qiao-Ling, Biernaskie, Jeff, Srour, Myriam, Dudley, Roy, Hall, Jeffery A., Sonnen, Joshua A., Arbour, Nathalie, Prat, Alexandre, Stratton, Jo Anne, Antel, Jack, and Healy, Luke M.
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RNA sequencing ,MICROGLIA ,CENTRAL nervous system ,TRANSCRIPTOMES - Abstract
Background: Microglia are tissue resident macrophages with a wide range of critically important functions in central nervous system development and homeostasis. Method: In this study, we aimed to characterize the transcriptional landscape of ex vivo human microglia across different developmental ages using cells derived from pre-natal, pediatric, adolescent, and adult brain samples. We further confirmed our transcriptional observations using ELISA and RNAscope. Results: We showed that pre-natal microglia have a distinct transcriptional and regulatory signature relative to their post-natal counterparts that includes an upregulation of phagocytic pathways. We confirmed upregulation of CD36, a positive regulator of phagocytosis, in pre-natal samples compared to adult samples in situ. Moreover, we showed adult microglia have more pro-inflammatory signature compared to microglia from other developmental ages. We indicated that adult microglia are more immune responsive by secreting increased levels of pro-inflammatory cytokines in response to LPS treatment compared to the pre-natal microglia. We further validated in situ up-regulation of IL18 and CXCR4 in human adult brain section compared to the pre-natal brain section. Finally, trajectory analysis indicated that the transcriptional signatures adopted by microglia throughout development are in response to a changing brain microenvironment and do not reflect predetermined developmental states. Conclusion: In all, this study provides unique insight into the development of human microglia and a useful reference for understanding microglial contribution to developmental and age-related human disease. [ABSTRACT FROM AUTHOR]
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- 2023
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28. Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids
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Tamaki, Yoshitaka, primary, Ross, Jay P., additional, Alipour, Paria, additional, Catoire, Hélène, additional, Rochefort, Daniel, additional, Urushitani, Makoto, additional, Takahashi, Ryosuke, additional, Sonnen, Joshua A., additional, Stifani, Stefano, additional, Dion, Patrick A., additional, and Rouleau, Guy A., additional
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- 2022
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29. Additional file 3 of MicroRNA-210 regulates the metabolic and inflammatory status of primary human astrocytes
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Kieran, Nicholas W., Suresh, Rahul, Dorion, Marie-France, MacDonald, Adam, Blain, Manon, Wen, Dingke, Fuh, Shih-Chieh, Ryan, Fari, Diaz, Roberto J., Stratton, Jo Anne, Ludwin, Samuel K., Sonnen, Joshua A., Antel, Jack, and Healy, Luke M.
- Abstract
Additional file 3: Figure S2. Primary human fetal astrocytes respond to in vitro stresses, and mice upregulate miR-210 around ischemic lesions. (A) Primary human astrocytes, oligodendrocytes, and microglia were separately cultured and analyzed for expression of canonically expressed genes of glial fibrillary acidic protein (GFAP), myelin basic protein (MBP) and ionized calcium binding adaptor molecule 1 (IBA1) by RT-qPCR. n = 3���4. (B) Primary human fetal astrocytes were immunostained with anti-GFAP, anti-O4, and anti-PU.1 antibodies. A CX7 automated microscope was used to quantify the percent positive astrocytes for each marker, n = 4. (C) Primary human astrocytes were treated in inflammatory (���I���) metabolic (���M���) or hypoxic (���H���) stress conditions induced by IL1b, glucose-free media, or a 1% oxygen chamber for 24 h compared to untreated control. RT-qPCR assessment of CXCL10, HMOX1, and MCT4 expression was measured to confirm the astrocytic response to inflammatory, metabolic, and hypoxic stress conditions, respectively, n = 4���6. (D) HeLa cells were left in normoxic (���N���) conditions for 48 h or were treated in 1% O2 (hypoxia, H) for the noted time. After 2���48 h, the cells were removed and were immediately lysed with RIPA buffer for subsequent Western blot. n = 3. (E) Graphical representation of the area investigated for miR-210 expression using miRscope. miR-210 was quantified in the highlighted region around the infarct site (left), and in the respectively highlighted region on the contralateral side of the brain (right). 300���500 cells were counted per brain section. (F) Representative images and quantification of microRNAscope (miRscope) of miR-210 around MCAO lesions (labeled as infarct) or on the contralateral side of the brain (labeled as control). Scale bar = 20 ��m. Quantification was performed by manual counting of the number of nuclei positive for one or more red puncta. Red dots show miR-210 expression, and DAPI (blue) was used as a counterstain. Each dot in image F represents a separate tissue section all derived from one mouse, resulting in five sections imaged per brain region.
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- 2022
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30. Additional file 4 of MicroRNA-210 regulates the metabolic and inflammatory status of primary human astrocytes
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Kieran, Nicholas W., Suresh, Rahul, Dorion, Marie-France, MacDonald, Adam, Blain, Manon, Wen, Dingke, Fuh, Shih-Chieh, Ryan, Fari, Diaz, Roberto J., Stratton, Jo Anne, Ludwin, Samuel K., Sonnen, Joshua A., Antel, Jack, and Healy, Luke M.
- Abstract
Additional file 4: Figure S3. microRNAs are differentially expressed in primary human astrocytes undergoing different stresses. (A) Primary human astrocytes, oligodendrocytes, and microglia were separately cultured and analyzed for expression of canonically expressed genes of glial fibrillary acidic protein (GFAP), myelin basic protein (MBP) and ionized calcium binding adaptor molecule 1 (IBA1) by RT-qPCR. n = 3���4. (B) Primary human fetal astrocytes were immunostained with anti-GFAP, anti-O4, and anti-PU.1 antibodies. A CX7 automated microscope was used to quantify the percent positive astrocytes for each marker, n = 4. (C) Primary human astrocytes were treated in inflammatory (���I���) metabolic (���M���) or hypoxic (���H���) stress conditions induced by IL1b, glucose-free media, or a 1% oxygen chamber for 24 h compared to untreated control. RT-qPCR assessment of CXCL10, HMOX1, and MCT4 expression was measured to confirm the astrocytic response to inflammatory, metabolic, and hypoxic stress conditions, respectively, n = 4���6. (D) HeLa cells were left in normoxic (���N���) conditions for 48 h or were treated in 1% O2 (hypoxia, H) for the noted time period. After 2���48 h, the cells were removed and were immediately lysed with RIPA buffer for subsequent Western blot. n = 3.
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- 2022
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31. Additional file 5 of MicroRNA-210 regulates the metabolic and inflammatory status of primary human astrocytes
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Kieran, Nicholas W., Suresh, Rahul, Dorion, Marie-France, MacDonald, Adam, Blain, Manon, Wen, Dingke, Fuh, Shih-Chieh, Ryan, Fari, Diaz, Roberto J., Stratton, Jo Anne, Ludwin, Samuel K., Sonnen, Joshua A., Antel, Jack, and Healy, Luke M.
- Abstract
Additional file 5: Figure S4. Astrocytic Metabolism and MCT4 Protein Expression is unchanged after 24- and 48-h 210M transfection, respectively. (A) Oxygen Consumption Rate (OCR) was measured in primary human astrocytes 24-h after transfection of 210S or 210M. n = 4 with 10 technical replicates for OCR experiments. (B) Extracellular Acidification Rate (ECAR) was measured in primary human astrocytes 24-h after transfection of 210S or 210M. n = 4 with 20 technical replicates for ECAR experiments. (C) Protein expression of MCT4 and Beta Tubulin (Beta-Tub) were measured by western blot in six separate human samples. Data is graphed as the fold change of MCT4 expression normalized to Beta-Tubulin expression and relative to the expression of 210S. For (C), each dot represents a separate human sample. (D) RT-qPCR assessment of LDHA in 210M-transfected cells relative to 210S-transfected cells 48 h after transfection. Mean �� SEM of 6 donors. Two-way ANOVA with Sidak���s correction was performed for Seahorse experiments, whereas t-test was used for MCT4 and LDHA expression. *p
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- 2022
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32. Additional file 6 of MicroRNA-210 regulates the metabolic and inflammatory status of primary human astrocytes
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Kieran, Nicholas W., Suresh, Rahul, Dorion, Marie-France, MacDonald, Adam, Blain, Manon, Wen, Dingke, Fuh, Shih-Chieh, Ryan, Fari, Diaz, Roberto J., Stratton, Jo Anne, Ludwin, Samuel K., Sonnen, Joshua A., Antel, Jack, and Healy, Luke M.
- Abstract
Additional file 6: Figure S5. 210M does not affect astrocytic expression of select pro- or anti-inflammatory genes. Select genes that have previously been identified to promote or antagonize inflammation in astrocytes were measured by RT-qPCR in primary human fetal astrocytes. Cells were transfected with 210S or 210M and left otherwise untreated or treated with hypoxia (H) and inflammation (I) using 1% oxygen and IL1b, respectively. n = 3���4, data is graphed as mean �� SEM and was analyzed using one-way ANOVA with Sidak���s multiple comparison test.
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- 2022
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33. Additional file 1 of MicroRNA-210 regulates the metabolic and inflammatory status of primary human astrocytes
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Kieran, Nicholas W., Suresh, Rahul, Dorion, Marie-France, MacDonald, Adam, Blain, Manon, Wen, Dingke, Fuh, Shih-Chieh, Ryan, Fari, Diaz, Roberto J., Stratton, Jo Anne, Ludwin, Samuel K., Sonnen, Joshua A., Antel, Jack, and Healy, Luke M.
- Abstract
Additional file 1: Table S1. Mean cycle threshold values of microRNAs from white matter and gray matter astrocytes.
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- 2022
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34. Human Oligodendrocyte Myelination Potential; Relation to Age and Differentiation
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Luo, Julia Xiao Xuan, primary, Cui, Qiao‐Ling, additional, Yaqubi, Moein, additional, Hall, Jeffery A., additional, Dudley, Roy, additional, Srour, Myriam, additional, Addour, Nassima, additional, Jamann, Hélène, additional, Larochelle, Catherine, additional, Blain, Manon, additional, Healy, Luke M., additional, Stratton, Jo Anne, additional, Sonnen, Joshua A., additional, Kennedy, Timothy E., additional, and Antel, Jack P., additional
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- 2022
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35. A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations
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Chen, Dong-Hui, Raskind, Wendy H., Parson, William W., Sonnen, Joshua A., Vu, Tiffany, Zheng, YunLin, Matsushita, Mark, Wolff, John, Lipe, Hillary, and Bird, Thomas D.
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- 2010
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36. Coincident pituitary adenoma and sellar meningioma
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Karsy, Michael, Sonnen, Joshua, and Couldwell, William T.
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- 2015
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37. 18F-MK-6240 tau-PET in genetic frontotemporal dementia
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Levy, Jake P, primary, Bezgin, Gleb, additional, Savard, Melissa, additional, Pascoal, Tharick A, additional, Finger, Elizabeth, additional, Laforce, Robert, additional, Sonnen, Joshua A, additional, Soucy, Jean-Paul, additional, Gauthier, Serge, additional, Rosa-Neto, Pedro, additional, and Ducharme, Simon, additional
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- 2021
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38. Cerebral Cortical Aβ42 and PHF-τ in 325 Consecutive Brain Autopsies Stratified by Diagnosis, Location, and APOE
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Postupna, Nadia, Keene, Christopher Dirk, Crane, Paul K., Gonzalez-Cuyar, Luis F., Sonnen, Joshua A., Hewitt, Jessica, Rice, Samantha, Howard, Kimberly, Montine, Kathleen S., Larson, Eric B., and Montine, Thomas J.
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- 2015
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39. Rarity of the Alzheimer Disease–Protective APP A673T Variant in the United States
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Wang, Li-San, Naj, Adam C., Graham, Robert R., Crane, Paul K., Kunkle, Brian W., Cruchaga, Carlos, Murcia, Josue D. Gonzalez, Cannon-Albright, Lisa, Baldwin, Clinton T., Zetterberg, Henrik, Blennow, Kaj, Kukull, Walter A., Faber, Kelley M., Schupf, Nicole, Norton, Maria C., Tschanz, JoAnn T., Munger, Ronald G., Corcoran, Christopher D., Rogaeva, Ekaterina, Lin, Chiao-Feng, Dombroski, Beth A., Cantwell, Laura B., Partch, Amanda, Valladares, Otto, Hakonarson, Hakon, St George-Hyslop, Peter, Green, Robert C., Goate, Alison M., Foroud, Tatiana M., Carney, Regina M., Larson, Eric B., Behrens, Timothy W., Kauwe, John S. K., Haines, Jonathan L., Farrer, Lindsay A., Pericak-Vance, Margaret A., Mayeux, Richard, Schellenberg, Gerard D., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Barber, Robert, Barmada, M. Michael, Barnes, Lisa L., 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., Bowen, James D., Boxer, Adam, Burke, James R., Buxbaum, Joseph D., Cairns, Nigel J., Cao, Chuanhai, Carlson, Chris S., Carroll, Steven L., Chui, Helena C., Clark, David G., Cribbs, David H., Crocco, Elizabeth A., DeCarli, Charles, DeKosky, Steven T., Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Duara, Ranjan, Ertekin-Taner, Nilufer, Fallon, Kenneth B., Farlow, Martin R., Ferris, Steven, Frosch, Matthew P., Galasko, Douglas R., Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Glass, Jonathan D., Graff-Radford, Neill R., Growdon, John H., Hamilton, Ronald L., Hamilton-Nelson, Kara L., Harrell, Lindy E., Head, Elizabeth, Honig, Lawrence S., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Kaye, Jeffrey A., Kim, Ronald, Koo, Edward H., Kowall, Neil W., Kramer, Joel H., Kramer, Patricia, LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, M. Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Murrell, Jill R., Olichney, John M., Parisi, Joseph E., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rosen, Howard J., Rosenberg, Roger N., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Younkin, Steven G., Yu, Chang-En, and Yu, Lei
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- 2015
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40. Assessment of the genetic variance of late-onset Alzheimer's disease
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Adams, Perrie M., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Baldwin, Clinton T., Barber, Robert C., Barmada, Michael M., 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., Bowen, James D., Boxer, Adam, Burke, James R., Burns, Jeffrey M., Buxbaum, Joseph D., Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Crane, Paul K., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Doody, Rachelle S., Duara, Ranjan, Ertekin-Taner, Nilufer, Evans, Denis A., Faber, Kelley M., Fairchild, Thomas J., Fallon, Kenneth B., Fardo, David W., Farlow, Martin R., Ferris, Steven, Foroud, Tatiana M., Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Goate, Alison M., Graff-Radford, Neill R., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton, Ronald L., Hamilton-Nelson, Kara L., Hardy, John, Harrell, Lindy E., Honig, Lawrence S., Huebinger, Ryan M., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Katz, Mindy J., Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Kowall, Neil W., Kramer, Joel H., Kukull, Walter A., Kunkle, Brian W., LaFerla, Frank M., Lah, James J., Larson, Eric B., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lipton, Richard B., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Mukherjee, Shubhabrata, Murrell, Jill R., Myers, Amanda J., Naj, Adam C., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reisch, Joan S., Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, St George-Hyslop, Peter, Stern, Robert A., Swerdlow, Russell H., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Wang, Li-San, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wendland, Jens R., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Winslow, Ashley R., Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Wu, Chuang-Kuo, Younkin, Steven G., Yu, Chang-En, Yu, Lei, Ridge, Perry G., Hoyt, Kaitlyn B., Boehme, Kevin, Haines, Jonathan L., Mayeux, Richard, Farrer, Lindsay A., Pericak-Vance, Margaret A., and Schellenberg, Gerard D.
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- 2016
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41. Role of Cerebrospinal Fluid and Plasma Biomarkers in the Diagnosis of Neurodegenerative Disorders and Mild Cognitive Impairment
- Author
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Gonzalez-Cuyar, Luis F., Sonnen, Joshua A., Montine, Kathleen S., Keene, C. Dirk, and Montine, Thomas J.
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- 2011
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42. Biomarkers for cognitive impairment and dementia in elderly people
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Sonnen, Joshua A, Montine, Kathleen S, Quinn, Joseph F, Kaye, Jeffrey A, Breitner, John CS, and Montine, Thomas J
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- 2008
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43. Free radical-mediated damage to brain in Alzheimer's disease and its transgenic mouse models
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Sonnen, Joshua A., Breitner, John C., Lovell, Mark A., Markesbery, William R., Quinn, Joseph F., and Montine, Thomas J.
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- 2008
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44. Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease: A Genome-Wide Association Study
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Naj, Adam C., Jun, Gyungah, Reitz, Christiane, Kunkle, Brian W., Perry, William, Park, Yo Son, Beecham, Gary W., Rajbhandary, Ruchita A., Hamilton-Nelson, Kara L., Wang, Li-San, Kauwe, John S. K., Huentelman, Matthew J., Myers, Amanda J., Bird, Thomas D., Boeve, Bradley F., Baldwin, Clinton T., Jarvik, Gail P., Crane, Paul K., Rogaeva, Ekaterina, Barmada, Michael M., Demirci, Yesim F., Cruchaga, Carlos, Kramer, Patricia L., Ertekin-Taner, Nilufer, Hardy, John, Graff-Radford, Neill R., Green, Robert C., Larson, Eric B., St. George-Hyslop, Peter H., Buxbaum, Joseph D., Evans, Denis A., Schneider, Julie A., Lunetta, Kathryn L., Kamboh, Ilyas M., Saykin, Andrew J., Reiman, Eric M., De Jager, Philip L., Bennett, David A., Morris, John C., Montine, Thomas J., Goate, Alison M., Blacker, Deborah, Tsuang, Debby W., Hakonarson, Hakon, Kukull, Walter A., Foroud, Tatiana M., Martin, Eden R., Haines, Jonathan L., Mayeux, Richard P., Farrer, Lindsay A., Schellenberg, Gerard D., Pericak-Vance, Margaret A., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Barber, Robert, Barnes, Lisa L., Beach, Thomas G., Becker, James T., Beekly, Duane, Bigio, Eileen H., Bowen, James D., Boxer, Adam, Burke, James R., Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlson, Chris S., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Cribbs, David H., Crocco, Elizabeth A., DeCarli, Charles, DeKosky, Steven T., Dick, Malcolm, Dickson, Dennis W., Duara, Ranjan, Faber, Kelley M., Fallon, Kenneth B., Farlow, Martin R., Ferris, Steven, Frosch, Matthew P., Galasko, Douglas R., Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Glass, Jonathan D., Growdon, John H., Hamilton, Ronald L., Harrell, Lindy E., Head, Elizabeth, Honig, Lawrence S., Hulette, Christine M., Hyman, Bradley T., Jicha, Gregory A., Jin, Lee-Way, Karydas, Anna, Kaye, Jeffrey A., Kim, Ronald, Koo, Edward H., Kowall, Neil W., Kramer, Joel H., LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lopez, Oscar L., Lyketsos, Constantine G., Mack, Wendy J., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Murrell, Jill R., Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Paulson, Henry L., Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reisberg, Barry, Ringman, John M., Roberson, Erik D., Rosen, Howard J., Rosenberg, Roger N., Sano, Mary, Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Younkin, Steven G., Yu, Chang-En, and Yu, Lei
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- 2014
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45. Neuropathologic Changes Associated With Atrial Fibrillation in a Population-Based Autopsy Cohort
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Dublin, Sascha, Anderson, Melissa L., Heckbert, Susan R., Hubbard, Rebecca A., Sonnen, Joshua A., Crane, Paul K., Montine, Thomas J., and Larson, Eric B.
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- 2014
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46. Chapter 29 - Molecular basis of diseases of the nervous system
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Flanagan, Margaret, Sonnen, Joshua A., Keene, Christopher Dirk, Hevner, Robert F., and Montine, Thomas J.
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- 2020
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47. Theoretical impact of the AT(N) framework on dementia using a community autopsy sample
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Burke, Bridget Teevan, primary, Latimer, Caitlin, additional, Keene, C. Dirk, additional, Sonnen, Joshua A., additional, McCormick, Wayne, additional, Bowen, James D., additional, McCurry, Susan M., additional, Larson, Eric B., additional, and Crane, Paul K., additional
- Published
- 2021
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48. Molecular Pathology
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Sonnen, Joshua A., primary, Keene, C. Dirk, additional, Hevner, Robert F., additional, and Montine, Thomas J., additional
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- 2010
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49. List of Contributors
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Aisner, Dara L., primary, Barmada, M. Michael, additional, Bedard, Philippe L., additional, Beenhouwer, David O., additional, Behari, Jaideep, additional, Berdasco, Maria, additional, Bethel, Carlise R., additional, Biggs, Joseph R., additional, Bullock, Grant C., additional, Campbell, Sheldon M., additional, Chan, Wai-Yee, additional, Coleman, William B., additional, Cremona, Mattia, additional, De Marzo, Angelo M., additional, Dinh, Phuong, additional, Dolgachev, Vladislav, additional, Espina, Virginia, additional, Esteller, Manel, additional, Farver, Carol F., additional, Funkhouser, William K., additional, Gotlieb, Avrum I., additional, Hevner, Robert F., additional, Highsmith, W. Edward, additional, Keene, C. Dirk, additional, Kemmner, Wolfgang, additional, Key, Nigel S., additional, Lee, Hong Kee, additional, Lefferts, Joel A., additional, Lemasters, John J., additional, Lerch, Markus M., additional, Liotta, Lance A., additional, Luchini, Alessandra, additional, Liu, Amber Chang, additional, Lu, Karen, additional, Lukacs, Nicholas W., additional, Ma, Alice D., additional, Mayerle, Julia, additional, Mensink, Kara A., additional, Mok, Samuel Chi-ho, additional, Singh Monga, Satdarshan (Paul), additional, Montine, Thomas J., additional, Moore, Jason H., additional, Mottl, Amy K., additional, Munger, Karl, additional, Nagymanyoki, Zoltan, additional, Nelson, William G., additional, Nester, Carla, additional, Oethinger, Margret D., additional, Pang, Alan L.-Y., additional, Petricoin, Emanuel F., additional, Rivenbark, Ashley G., additional, Rhodes, C. Harker, additional, Rubinas, Tara C., additional, Schafer, Reinhold, additional, Sendler, Matthias, additional, Sepulveda, Antonia R., additional, Sers, Christine, additional, Silverman, Lawrence M., additional, Snoj, Natasa, additional, Sonnen, Joshua A., additional, Sotiriou, Christos, additional, Tsongalis, Gregory J., additional, Wessagowit, Vesarat, additional, Whitcomb, David C., additional, Wong, Kwong-kwok, additional, Zander, Dani S., additional, and Zhang, Dong-Er, additional
- Published
- 2010
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50. 18F-MK-6240 tau-PET in genetic frontotemporal dementia.
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Levy, Jake P, Bezgin, Gleb, Savard, Melissa, Pascoal, Tharick A, Finger, Elizabeth, Laforce, Robert, Sonnen, Joshua A, Soucy, Jean-Paul, Gauthier, Serge, Rosa-Neto, Pedro, and Ducharme, Simon
- Subjects
RESEARCH ,ALZHEIMER'S disease ,GENETIC mutation ,NERVE tissue proteins ,NEURONS ,RESEARCH methodology ,ISOQUINOLINE ,EVALUATION research ,COMPARATIVE studies ,QUESTIONNAIRES ,FRONTOTEMPORAL dementia - Abstract
Tau is one of several proteins associated with frontotemporal dementia. While knowing which protein is causing a patient's disease is crucial, no biomarker currently exists for identifying tau in vivo in frontotemporal dementia. The objective of this study was to investigate the potential for the promising 18F-MK-6240 PET tracer to bind to tau in vivo in genetic frontotemporal dementia. We enrolled subjects with genetic frontotemporal dementia, who constitute an ideal population for testing because their pathology is already known based on their mutation. Ten participants (three with symptomatic P301L and R406W MAPT mutations expected to show tau binding, three with presymptomatic MAPT mutations and four with non-tau mutations who acted as disease controls) underwent clinical characterization, tau-PET scanning with 18F-MK-6240, amyloid-PET imaging with 18F-NAV-4694 to rule out confounding Alzheimer's pathology, and high-resolution structural MRI. Tau-PET scans of all three symptomatic MAPT carriers demonstrated at least mild 18F-MK-6240 binding in expected regions, with particularly strong binding in a subject with an R406W MAPT mutation (known to be associated with Alzheimer's like neurofibrillary tangles). Two asymptomatic MAPT carriers estimated to be 5 years from disease onset both showed modest 18F-MK-6240 binding, while one ∼30 years from disease onset did not exhibit any binding. Additionally, four individuals with symptomatic frontotemporal dementia caused by a non-tau mutation were scanned (two C9orf72; one GRN; one VCP): 18F-MK-6240 scans were negative for three subjects, while one advanced C9orf72 case showed minimal regionally non-specific binding. All 10 amyloid-PET scans were negative. Furthermore, a general linear model contrasting genetic frontotemporal dementia subjects to a set of 83 age-matched controls showed significant binding only in the MAPT carriers in selected frontal, temporal and subcortical regions. In summary, our findings demonstrate mild but significant binding of MK-6240 in amyloid-negative P301L and R406W MAPT mutation subjects, with higher standardized uptake value ratio in the R406W mutation associated with the presence of NFTs, and little non-specific binding. These results highlight that a positive 18F-MK-6240 tau-PET does not necessarily imply a diagnosis of Alzheimer's disease and point towards a potential use for 18F-MK-6240 as a biomarker in certain tauopathies beyond Alzheimer's, although further patient recruitment and autopsy studies will be necessary to determine clinical applicability. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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