% alzhub.org topic: dosage % Source: https://alzhub.org/topic/dosage % 80 entries, in the order the page lists them. Built from alzhub.org's own records. % 0 entries have no readable author in the source record and carry no author field. @article{valledor2026-f87dce03, author = {Valledor, M. and Smith, K. and Lawrence, J. B. and Sosa, L. J.}, title = {{APP Dosage and Extracellular Domain Variants Drive Distinct Defects in Neurogenesis modeled in Down Syndrome iPS cells}}, journal = {bioRxiv}, year = {2026}, doi = {10.64898/2026.08.05.742240}, url = {https://doi.org/10.64898/2026.08.05.742240} } @article{dooling2026-c6cd8c6a, author = {Dooling, B. R. and Vielle, A. and Lucero, E. M. and Rydland, C. and Quang, D. and Summers, R. and Esquer, H. and Coughlan, C. and others}, title = {{Trisomy 21 cerebral organoids exhibit Alzheimer’s disease amyloid and apolipoprotein E co-pathologies}}, journal = {bioRxiv}, year = {2026}, doi = {10.64898/2026.07.01.735908}, url = {https://doi.org/10.64898/2026.07.01.735908} } @article{lee2026-1135530e, author = {Lee, N. R. and Tao, S. and Voltaire, S. and Bishop, L. and Esbensen, A. and Lee, B. and Shea, L. and Wallace, G.}, title = {{Prevalence of epilepsy and young-onset dementia in adults with intellectual disability: Contrasting Down syndrome and autism diagnoses}}, journal = {PsyArXiv}, year = {2026}, doi = {10.31234/osf.io/647m3_v2}, url = {https://doi.org/10.31234/osf.io/647m3_v2} } @article{west2026-7b94cbdf, author = {West, N. R. and Lindberg, M. F. and Dairou, J. and MacGregor, S. and Puthireddy, S. and Meijer, L. and Bhattacharyya, A.}, title = {{Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 iPSC-derived neural cells}}, journal = {bioRxiv}, year = {2026}, doi = {10.64898/2026.02.05.704014}, url = {https://doi.org/10.64898/2026.02.05.704014} } @article{patel2025-c5fbe4fa, author = {Patel, D. and Rakowiecki, K. and Lazarov, O.}, title = {{Amyloid precursor protein dosage normalization rescues neurogenesis and Alzheimer’s Disease phenotypes associated with Down Syndrome}}, journal = {bioRxiv}, year = {2025}, doi = {10.1101/2025.07.30.667706}, url = {https://doi.org/10.1101/2025.07.30.667706} } @article{dunn2025-82cc99de, author = {Dunn, L. N. and Niemeyer, B. F. and Eduthan, N. P. and Schade, K. A. and Waugh, K. A. and Brown, C. and Rachubinski, A. L. and Timkovich, A. E. and others}, title = {{Altered Hepatic Metabolism in Down Syndrome}}, journal = {Cell reports}, year = {2025}, doi = {10.1101/2025.05.27.656393}, url = {https://doi.org/10.1101/2025.05.27.656393} } @article{baksh2023-37119823, author = {Baksh, R. A. and Pape, S. E. and Chan, L. F. and Aslam, A. A. and Gulliford, M. C. and Strydom, A. and {GO-DS21 Consortium}}, title = {{Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records}}, journal = {The Lancet. Public health}, year = {2023}, doi = {10.1016/s2468-2667(23)00057-9}, pmid = {37119823}, url = {https://doi.org/10.1016/s2468-2667(23)00057-9} } @article{iulita2023-37056479, author = {Iulita, M. F. and Bejanin, A. and Vilaplana, E. and Carmona-Iragui, M. and Benejam, B. and Videla, L. and Barroeta, I. and Fernández, S. and others}, title = {{Association of biological sex with clinical outcomes and biomarkers of Alzheimer's disease in adults with Down syndrome}}, journal = {Brain communications}, year = {2023}, doi = {10.1093/braincomms/fcad074}, pmid = {37056479}, url = {https://doi.org/10.1093/braincomms/fcad074} } @article{fleming2023-36565120, author = {Fleming, Victoria and Helsel, Brian C and Ptomey, Lauren T and Rosas, H Diana and Handen, Benjamin and Laymon, Charles and Christian, Bradley T and Head, Elizabeth and others}, title = {{Weight Loss and Alzheimer's Disease in Down Syndrome}}, journal = {Journal of Alzheimer's disease : JAD}, year = {2023}, doi = {10.3233/jad-220865}, pmid = {36565120}, url = {https://doi.org/10.3233/jad-220865} } @article{xu2022-35661546, author = {Xu, Keren and Li, Shaobo and Muskens, Ivo S and Elliott, Natalina and Myint, Swe Swe and Pandey, Priyatama and Hansen, Helen M and Morimoto, Libby M and others}, title = {{Accelerated epigenetic aging in newborns with Down syndrome}}, journal = {Aging cell}, year = {2022}, doi = {10.1111/acel.13652}, pmid = {35661546}, url = {https://doi.org/10.1111/acel.13652} } @article{ichimata2022-35311708, author = {Ichimata, Shojiro and Yoshida, Koji and Visanji, Naomi P and Lang, Anthony E and Nishida, Naoki and Kovacs, Gabor G}, title = {{Patterns of Mixed Pathologies in Down Syndrome}}, journal = {Journal of Alzheimer's disease : JAD}, year = {2022}, doi = {10.3233/jad-215675}, pmid = {35311708}, url = {https://doi.org/10.3233/jad-215675} } @article{palmer2021-34795060, author = {Palmer, Carter R and Liu, Christine S and Romanow, William J and Lee, Ming-Hsiang and Chun, Jerold}, title = {{Altered cell and RNA isoform diversity in aging Down syndrome brains}}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, year = {2021}, doi = {10.1073/pnas.2114326118}, pmid = {34795060}, url = {https://doi.org/10.1073/pnas.2114326118} } @article{johannesson2021-34091073, author = {Johannesson, Malin and Sahlin, Charlotte and Söderberg, Linda and Basun, Hans and Fälting, Johanna and Möller, Christer and Zachrisson, Olof and Sunnemark, Dan and others}, title = {{Elevated soluble amyloid beta protofibrils in Down syndrome and Alzheimer's disease}}, journal = {Molecular and cellular neurosciences}, year = {2021}, doi = {10.1016/j.mcn.2021.103641}, pmid = {34091073}, url = {https://doi.org/10.1016/j.mcn.2021.103641} } @article{csincsik2021-33748396, author = {Csincsik, Lajos and Nelson, Rachel and Walpert, Madeleine J and Peto, Tunde and Holland, Anthony and Lengyel, Imre}, title = {{Increased choroidal thickness in adults with Down syndrome}}, journal = {Alzheimer's \& dementia (Amsterdam, Netherlands)}, year = {2021}, doi = {10.1002/dad2.12170}, pmid = {33748396}, url = {https://doi.org/10.1002/dad2.12170} } @article{floresaguilar2020-33206953, author = {Flores-Aguilar, L. and Iulita, M. F. and Kovecses, O. and Torres, M. D. and Levi, S. M. and Zhang, Y. and Askenazi, M. and Wisniewski, T. and others}, title = {{Evolution of neuroinflammation across the lifespan of individuals with Down syndrome}}, journal = {Brain : a journal of neurology}, year = {2020}, doi = {10.1093/brain/awaa326}, pmid = {33206953}, url = {https://doi.org/10.1093/brain/awaa326} } @article{handen2020-32775597, author = {Handen, B. L. and Lott, I. T. and Christian, B. T. and Schupf, N. and OBryant, S. and Mapstone, M. and Fagan, A. M. and Lee, J. H. and others}, title = {{The Alzheimer's Biomarker Consortium-Down Syndrome: Rationale and methodology}}, journal = {Alzheimer's \& dementia (Amsterdam, Netherlands)}, year = {2020}, doi = {10.1002/dad2.12065}, pmid = {32775597}, url = {https://doi.org/10.1002/dad2.12065} } @article{jiang2019-31043483, author = {Jiang, Y. and Sato, Y. and Im, E. and Berg, M. and Bordi, M. and Darji, S. and Kumar, A. and Mohan, P. S. and others}, title = {{Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99)}}, journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience}, year = {2019}, doi = {10.1523/jneurosci.0578-19.2019}, pmid = {31043483}, url = {https://doi.org/10.1523/jneurosci.0578-19.2019} } @article{wiseman2018-29945247, author = {Wiseman, F. K. and Pulford, L. J. and Barkus, C. and Liao, F. and Portelius, E. and Webb, R. and Chávez-Gutiérrez, L. and Cleverley, K. and others}, title = {{Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP}}, journal = {Brain : a journal of neurology}, year = {2018}, doi = {10.1093/brain/awy159}, pmid = {29945247}, url = {https://doi.org/10.1093/brain/awy159} } @article{davidson2018-29973279, author = {Davidson, Y. S. and Robinson, A. and Prasher, V. P. and Mann, D. M. A.}, title = {{The age of onset and evolution of Braak tangle stage and Thal amyloid pathology of Alzheimer's disease in individuals with Down syndrome}}, journal = {Acta neuropathologica communications}, year = {2018}, doi = {10.1186/s40478-018-0559-4}, pmid = {29973279}, url = {https://doi.org/10.1186/s40478-018-0559-4} } @article{strydom2018-29631614, author = {Strydom, A. and Heslegrave, A. and Startin, C. M. and Mok, K. Y. and Hardy, J. and Groet, J. and Nizetic, D. and Zetterberg, H. and others}, title = {{Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome}}, journal = {Alzheimer's research \& therapy}, year = {2018}, doi = {10.1186/s13195-018-0367-x}, pmid = {29631614}, url = {https://doi.org/10.1186/s13195-018-0367-x} } @article{izzo2018-30134785, author = {Izzo, A. and Mollo, N. and Nitti, M. and Paladino, S. and Calì, G. and Genesio, R. and Bonfiglio, F. and Cicatiello, R. and others}, title = {{Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets}}, journal = {Molecular medicine (Cambridge, Mass.)}, year = {2018}, doi = {10.1186/s10020-018-0004-y}, pmid = {30134785}, url = {https://doi.org/10.1186/s10020-018-0004-y} } @article{colacurcio2018-28988799, author = {Colacurcio, D. J. and Pensalfini, A. and Jiang, Y. and Nixon, R. A.}, title = {{Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease}}, journal = {Free radical biology \& medicine}, year = {2018}, doi = {10.1016/j.freeradbiomed.2017.10.001}, pmid = {28988799}, url = {https://doi.org/10.1016/j.freeradbiomed.2017.10.001} } @article{torres2018-28965914, author = {Torres, Maria D and Garcia, Octavio and Tang, Cindy and Busciglio, Jorge}, title = {{Dendritic spine pathology and thrombospondin-1 deficits in Down syndrome}}, journal = {Free radical biology \& medicine}, year = {2018}, doi = {10.1016/j.freeradbiomed.2017.09.025}, pmid = {28965914}, url = {https://doi.org/10.1016/j.freeradbiomed.2017.09.025} } @article{zis2018-28870521, author = {Zis, P. and Strydom, A.}, title = {{Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome}}, journal = {Free radical biology \& medicine}, year = {2018}, doi = {10.1016/j.freeradbiomed.2017.08.024}, pmid = {28870521}, url = {https://doi.org/10.1016/j.freeradbiomed.2017.08.024} } @article{tcw2017-28003277, author = {Tcw, J. and Goate, A. M.}, title = {{Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease}}, journal = {Cold Spring Harbor perspectives in medicine}, year = {2017}, doi = {10.1101/cshperspect.a024539}, pmid = {28003277}, url = {https://doi.org/10.1101/cshperspect.a024539} } @article{cole2017-28482213, author = {Cole, J. H. and Annus, T. and Wilson, L. R. and Remtulla, R. and Hong, Y. T. and Fryer, T. D. and Acosta-Cabronero, J. and Cardenas-Blanco, A. and others}, title = {{Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline}}, journal = {Neurobiology of aging}, year = {2017}, doi = {10.1016/j.neurobiolaging.2017.04.006}, pmid = {28482213}, url = {https://doi.org/10.1016/j.neurobiolaging.2017.04.006} } @article{doran2017-27983553, author = {Doran, E. and Keator, D. and Head, E. and Phelan, M. J. and Kim, R. and Totoiu, M. and Barrio, JR. and Small, G. W. and others}, title = {{Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer's Disease: The Role of APP}}, journal = {Journal of Alzheimer's disease : JAD}, year = {2017}, doi = {10.3233/jad-160836}, pmid = {27983553}, url = {https://doi.org/10.3233/jad-160836} } @article{hamlett2017-27755974, author = {Hamlett, E. D. and Goetzl, E. J. and Ledreux, A. and Vasilevko, V. and Boger, H. A. and LaRosa, A. and Clark, D. and Carroll, S. L. and others}, title = {{Neuronal exosomes reveal Alzheimer's disease biomarkers in Down syndrome}}, journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association}, year = {2017}, doi = {10.1016/j.jalz.2016.08.012}, pmid = {27755974}, url = {https://doi.org/10.1016/j.jalz.2016.08.012} } @article{duchon2016-27375444, author = {Duchon, A. and Herault, Y.}, title = {{DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome}}, journal = {Frontiers in behavioral neuroscience}, year = {2016}, doi = {10.3389/fnbeh.2016.00104}, pmid = {27375444}, url = {https://doi.org/10.3389/fnbeh.2016.00104} } @article{xu2016-27064279, author = {Xu, W. and Weissmiller, A. M. and White, J. A. and Fang, F. and Wang, X. and Wu, Y. and Pearn, M. L. and Zhao, X. and others}, title = {{Amyloid precursor protein-mediated endocytic pathway disruption induces axonal dysfunction and neurodegeneration}}, journal = {The Journal of clinical investigation}, year = {2016}, doi = {10.1172/jci82409}, pmid = {27064279}, url = {https://doi.org/10.1172/jci82409} } @article{karmiloffsmith2016-27019699, author = {Karmiloff-Smith, A. and Al-Janabi, T. and D'Souza, H. and Groet, J. and Massand, E. and Mok, K. and Startin, C. and Fisher, E. and others}, title = {{The importance of understanding individual differences in Down syndrome}}, journal = {F1000Research}, year = {2016}, doi = {10.12688/f1000research.7506.1}, pmid = {27019699}, url = {https://doi.org/10.12688/f1000research.7506.1} } @article{annus2016-26362596, author = {Annus, T. and Wilson, L. R. and Hong, Y. T. and Acosta-Cabronero, J. and Fryer, T. D. and Cardenas-Blanco, A. and Smith, R. and Boros, I. and others}, title = {{The pattern of amyloid accumulation in the brains of adults with Down syndrome}}, journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association}, year = {2016}, doi = {10.1016/j.jalz.2015.07.490}, pmid = {26362596}, url = {https://doi.org/10.1016/j.jalz.2015.07.490} } @article{kim2016-26194181, author = {Kim, S. and Sato, Y. and Mohan, P. S. and Peterhoff, C. and Pensalfini, A. and Rigoglioso, A. and Jiang, Y. and Nixon, R. A.}, title = {{Evidence that the rab5 effector APPL1 mediates APP-βCTF-induced dysfunction of endosomes in Down syndrome and Alzheimer's disease}}, journal = {Molecular psychiatry}, year = {2016}, doi = {10.1038/mp.2015.97}, pmid = {26194181}, url = {https://doi.org/10.1038/mp.2015.97} } @article{asim2015-26062604, author = {Asim, A. and Kumar, A. and Muthuswamy, S. and Jain, S. and Agarwal, S.}, title = {{"Down syndrome: an insight of the disease"}}, journal = {Journal of biomedical science}, year = {2015}, doi = {10.1186/s12929-015-0138-y}, pmid = {26062604}, url = {https://doi.org/10.1186/s12929-015-0138-y} } @article{grieco2015-25989505, author = {Grieco, J. and Pulsifer, M. and Seligsohn, K. and Skotko, B. and Schwartz, A.}, title = {{Down syndrome: Cognitive and behavioral functioning across the lifespan}}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, year = {2015}, doi = {10.1002/ajmg.c.31439}, pmid = {25989505}, url = {https://doi.org/10.1002/ajmg.c.31439} } @article{goffinski2015-c6aa376b, author = {Goffinski, Alida and Stanley, Maria A. and Shepherd, Nicole and Duvall, Nichole and Jenkinson, Sandra B. and Davis, Charlene and Bull, Marilyn J. and Roper, Randall J.}, title = {{Obstructive sleep apnea in young infants with Down Syndrome evaluated in a Down Syndrome specialty clinic}}, journal = {American Journal of Medical Genetics Part A}, year = {2015}, doi = {10.1002/ajmg.a.36903}, url = {https://doi.org/10.1002/ajmg.a.36903} } @article{hartley2015-25510383, author = {Hartley, D. and Blumenthal, T. and Carrillo, M. and DiPaolo, G. and Esralew, L. and Gardiner, K. and Granholm, A. C. and Iqbal, K. and others}, title = {{Down syndrome and Alzheimer's disease: Common pathways, common goals}}, journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association}, year = {2015}, doi = {10.1016/j.jalz.2014.10.007}, pmid = {25510383}, url = {https://doi.org/10.1016/j.jalz.2014.10.007} } @article{iulita2014-24962069, author = {Iulita, M. F. and Cuello, A. C.}, title = {{Nerve growth factor metabolic dysfunction in Alzheimer's disease and Down syndrome}}, journal = {Trends in pharmacological sciences}, year = {2014}, doi = {10.1016/j.tips.2014.04.010}, pmid = {24962069}, url = {https://doi.org/10.1016/j.tips.2014.04.010} } @article{mccarron2014-23902161, author = {McCarron, M. and McCallion, P. and Reilly, E. and Mulryan, N.}, title = {{A prospective 14-year longitudinal follow-up of dementia in persons with Down syndrome}}, journal = {Journal of intellectual disability research : JIDR}, year = {2014}, doi = {10.1111/jir.12074}, pmid = {23902161}, url = {https://doi.org/10.1111/jir.12074} } @article{velazquez2013-23643842, author = {Velazquez, R. and Ash, J. A. and Powers, B. E. and Kelley, C. M. and Strawderman, M. and Luscher, Z. I. and Ginsberg, S. D. and Mufson, E. J. and others}, title = {{Maternal choline supplementation improves spatial learning and adult hippocampal neurogenesis in the Ts65Dn mouse model of Down syndrome}}, journal = {Neurobiology of disease}, year = {2013}, doi = {10.1016/j.nbd.2013.04.016}, pmid = {23643842}, url = {https://doi.org/10.1016/j.nbd.2013.04.016} } @article{glasson2014-23510031, author = {Glasson, E. J. and Dye, D. E. and Bittles, A. H.}, title = {{The triple challenges associated with age-related comorbidities in Down syndrome}}, journal = {Journal of intellectual disability research : JIDR}, year = {2014}, doi = {10.1111/jir.12026}, pmid = {23510031}, url = {https://doi.org/10.1111/jir.12026} } @article{englund2013-23436430, author = {Englund, A. and Jonsson, B. and Zander, C. S. and Gustafsson, J. and Annerén, G.}, title = {{Changes in mortality and causes of death in the Swedish Down syndrome population}}, journal = {American journal of medical genetics. Part A}, year = {2013}, doi = {10.1002/ajmg.a.35706}, pmid = {23436430}, url = {https://doi.org/10.1002/ajmg.a.35706} } @article{helguera2013-23312288, author = {Helguera, P. and Seiglie, J. and Rodriguez, J. and Hanna, M. and Helguera, G. and Busciglio, J.}, title = {{Adaptive downregulation of mitochondrial function in down syndrome}}, journal = {Cell metabolism}, year = {2013}, doi = {10.1016/j.cmet.2012.12.005}, pmid = {23312288}, url = {https://doi.org/10.1016/j.cmet.2012.12.005} } @article{zigman2013-23949829, author = {Zigman, W. B.}, title = {{Atypical aging in Down syndrome}}, journal = {Developmental disabilities research reviews}, year = {2013}, doi = {10.1002/ddrr.1128}, pmid = {23949829}, url = {https://doi.org/10.1002/ddrr.1128} } @article{shi2012-22344463, author = {Shi, Y. and Kirwan, P. and Smith, J. and MacLean, G. and Orkin, S. H. and Livesey, F. J.}, title = {{A human stem cell model of early Alzheimer's disease pathology in Down syndrome}}, journal = {Science translational medicine}, year = {2012}, doi = {10.1126/scitranslmed.3003771}, pmid = {22344463}, url = {https://doi.org/10.1126/scitranslmed.3003771} } @article{lott2012-22541290, author = {Lott, I. T.}, title = {{Neurological phenotypes for Down syndrome across the life span}}, journal = {Progress in brain research}, year = {2012}, doi = {10.1016/b978-0-444-54299-1.00006-6}, pmid = {22541290}, url = {https://doi.org/10.1016/b978-0-444-54299-1.00006-6} } @article{reinholdt2011-21953412, author = {Reinholdt, L. G. and Ding, Y. and Gilbert, G. J. and Czechanski, A. and Solzak, J. P. and Roper, R. J. and Johnson, M. T. and Donahue, L. R. and others}, title = {{Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn}}, journal = {Mammalian genome : official journal of the International Mammalian Genome Society}, year = {2011}, doi = {10.1007/s00335-011-9357-z}, pmid = {21953412}, url = {https://doi.org/10.1007/s00335-011-9357-z} } @article{moon2010-20528079, author = {Moon, J. and Chen, M. and Gandhy, S. U. and Strawderman, M. and Levitsky, D. A. and Maclean, K. N. and Strupp, B. J.}, title = {{Perinatal choline supplementation improves cognitive functioning and emotion regulation in the Ts65Dn mouse model of Down syndrome}}, journal = {Behavioral neuroscience}, year = {2010}, doi = {10.1037/a0019590}, pmid = {20528079}, url = {https://doi.org/10.1037/a0019590} } @article{coskun2010-20463402, author = {Coskun, P. E. and Wyrembak, J. and Derbereva, O. and Melkonian, G. and Doran, E. and Lott, I. T. and Head, E. and Cotman, C. W. and others}, title = {{Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia}}, journal = {Journal of Alzheimer's disease : JAD}, year = {2010}, doi = {10.3233/jad-2010-100351}, pmid = {20463402}, url = {https://doi.org/10.3233/jad-2010-100351} } @article{jiang2010-20080541, author = {Jiang, Y. and Mullaney, K. A. and Peterhoff, C. M. and Che, S. and Schmidt, S. D. and Boyer-Boiteau, A. and Ginsberg, S. D. and Cataldo, A. M. and others}, title = {{Alzheimer's-related endosome dysfunction in Down syndrome is Abeta-independent but requires APP and is reversed by BACE-1 inhibition}}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, year = {2010}, doi = {10.1073/pnas.0908953107}, pmid = {20080541}, url = {https://doi.org/10.1073/pnas.0908953107} } @article{park2009-19685005, author = {Park, J. and Song, W. J. and Chung, K. C.}, title = {{Function and regulation of Dyrk1A: towards understanding Down syndrome}}, journal = {Cellular and molecular life sciences : CMLS}, year = {2009}, doi = {10.1007/s00018-009-0123-2}, pmid = {19685005}, url = {https://doi.org/10.1007/s00018-009-0123-2} } @article{patterson2009-19526251, author = {Patterson, D.}, title = {{Molecular genetic analysis of Down syndrome}}, journal = {Human genetics}, year = {2009}, doi = {10.1007/s00439-009-0696-8}, pmid = {19526251}, url = {https://doi.org/10.1007/s00439-009-0696-8} } @article{wiseman2009-19297404, author = {Wiseman, F. K. and Alford, K. A. and Tybulewicz, V. L. and Fisher, E. M.}, title = {{Down syndrome--recent progress and future prospects}}, journal = {Human molecular genetics}, year = {2009}, doi = {10.1093/hmg/ddp010}, pmid = {19297404}, url = {https://doi.org/10.1093/hmg/ddp010} } @article{ryoo2008-18005339, author = {Ryoo, SR. and Cho, H. J. and Lee, H. W. and Jeong, H. K. and Radnaabazar, C. and Kim, Y. S. and Kim, M. J. and Son, M. Y. and others}, title = {{Dual-specificity tyrosine(Y)-phosphorylation regulated kinase 1A-mediated phosphorylation of amyloid precursor protein: evidence for a functional link between Down syndrome and Alzheimer's disease}}, journal = {Journal of neurochemistry}, year = {2008}, doi = {10.1111/j.1471-4159.2007.05075.x}, pmid = {18005339}, url = {https://doi.org/10.1111/j.1471-4159.2007.05075.x} } @article{zigman2007-17910085, author = {Zigman, W. B. and Lott, I. T.}, title = {{Alzheimer's disease in Down syndrome: neurobiology and risk}}, journal = {Mental retardation and developmental disabilities research reviews}, year = {2007}, doi = {10.1002/mrdd.20163}, pmid = {17910085}, url = {https://doi.org/10.1002/mrdd.20163} } @article{dykens2007-17910080, author = {Dykens, E. M.}, title = {{Psychiatric and behavioral disorders in persons with Down syndrome}}, journal = {Mental retardation and developmental disabilities research reviews}, year = {2007}, doi = {10.1002/mrdd.20159}, pmid = {17910080}, url = {https://doi.org/10.1002/mrdd.20159} } @article{niehrs2006-17143291, author = {Niehrs, C.}, title = {{Function and biological roles of the Dickkopf family of Wnt modulators}}, journal = {Oncogene}, year = {2006}, doi = {10.1038/sj.onc.1210054}, pmid = {17143291}, url = {https://doi.org/10.1038/sj.onc.1210054} } @article{sun2006-16816112, author = {Sun, X. and He, G. and Song, W.}, title = {{BACE2, as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome}}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, year = {2006}, doi = {10.1096/fj.05-5632com}, pmid = {16816112}, url = {https://doi.org/10.1096/fj.05-5632com} } @article{rowe2006-16480563, author = {Rowe, J. and Lavender, A. and Turk, V.}, title = {{Cognitive executive function in Down's syndrome}}, journal = {The British journal of clinical psychology}, year = {2006}, doi = {10.1348/014466505x29594}, pmid = {16480563}, url = {https://doi.org/10.1348/014466505x29594} } @article{cataldo2003-12890772, author = {Cataldo, A. M. and Petanceska, S. and Peterhoff, C. M. and Terio, N. B. and Epstein, C. J. and Villar, A. and Carlson, E. J. and Staufenbiel, M. and others}, title = {{App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome}}, journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience}, year = {2003}, doi = {10.1523/jneurosci.23-17-06788.2003}, pmid = {12890772}, url = {https://doi.org/10.1523/jneurosci.23-17-06788.2003} } @article{roizen2003-12699967, author = {Roizen, N. J. and Patterson, D.}, title = {{Down's syndrome}}, journal = {Lancet (London, England)}, year = {2003}, doi = {10.1016/s0140-6736(03)12987-x}, pmid = {12699967}, url = {https://doi.org/10.1016/s0140-6736(03)12987-x} } @article{bimontenelson2003-12642175, author = {Bimonte-Nelson, H. A. and Hunter, C. L. and Nelson, M. E. and Granholm, A. C.}, title = {{Frontal cortex BDNF levels correlate with working memory in an animal model of Down syndrome}}, journal = {Behavioural brain research}, year = {2003}, doi = {10.1016/s0166-4328(02)00082-7}, pmid = {12642175}, url = {https://doi.org/10.1016/s0166-4328(02)00082-7} } @article{mori2002-12440481, author = {Mori, C. and Spooner, E. T. and Wisniewsk, K. E. and Wisniewski, T. M. and Yamaguch, H. and Saido, T. C. and Tolan, D. R. and Selkoe, D. J. and others}, title = {{Intraneuronal Abeta42 accumulation in Down syndrome brain}}, journal = {Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis}, year = {2002}, doi = {10.3109/13506120208995241}, pmid = {12440481}, url = {https://doi.org/10.3109/13506120208995241} } @article{shim2002-12009525, author = {Shim, K. S. and Lubec, G.}, title = {{Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome}}, journal = {Neuroscience letters}, year = {2002}, doi = {10.1016/s0304-3940(02)00210-0}, pmid = {12009525}, url = {https://doi.org/10.1016/s0304-3940(02)00210-0} } @article{savulescu2001-12058767, author = {Savulescu, J.}, title = {{Procreative beneficence: why we should select the best children}}, journal = {Bioethics}, year = {2001}, doi = {10.1111/1467-8519.00251}, pmid = {12058767}, url = {https://doi.org/10.1111/1467-8519.00251} } @article{smith2001-11578024, author = {Smith, D. S.}, title = {{Health care management of adults with Down syndrome}}, journal = {American family physician}, year = {2001}, pmid = {11578024} } @article{lott2001-11553933, author = {Lott, I. T. and Head, E.}, title = {{Down syndrome and Alzheimer's disease: a link between development and aging}}, journal = {Mental retardation and developmental disabilities research reviews}, year = {2001}, doi = {10.1002/mrdd.1025}, pmid = {11553933}, url = {https://doi.org/10.1002/mrdd.1025} } @article{fuentes2000-10861295, author = {Fuentes, J. J. and Genescà, L. and Kingsbury, T. J. and Cunningham, K. W. and Pérez-Riba, M. and Estivill, X. and de la Luna, S.}, title = {{DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways}}, journal = {Human molecular genetics}, year = {2000}, doi = {10.1093/hmg/9.11.1681}, pmid = {10861295}, url = {https://doi.org/10.1093/hmg/9.11.1681} } @article{westlund1999-10051671, author = {Westlund, B. and Parry, D. and Clover, R. and Basson, M. and Johnson, C. D.}, title = {{Reverse genetic analysis of Caenorhabditis elegans presenilins reveals redundant but unequal roles for sel-12 and hop-1 in Notch-pathway signaling}}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, year = {1999}, doi = {10.1073/pnas.96.5.2497}, pmid = {10051671}, url = {https://doi.org/10.1073/pnas.96.5.2497} } @article{leverenz1998-9527899, author = {Leverenz, J. B. and Raskind, M. A.}, title = {{Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: a regional quantitative analysis}}, journal = {Experimental neurology}, year = {1998}, doi = {10.1006/exnr.1997.6777}, pmid = {9527899}, url = {https://doi.org/10.1006/exnr.1997.6777} } @article{vanleeuwen1998-9422699, author = {van Leeuwen, F. W. and de Kleijn, D. P. and van den Hurk, H. H. and Neubauer, A. and Sonnemans, M. A. and Sluijs, J. A. and Köycü, S. and Ramdjielal, R. D. and others}, title = {{Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients}}, journal = {Science (New York, N.Y.)}, year = {1998}, doi = {10.1126/science.279.5348.242}, pmid = {9422699}, url = {https://doi.org/10.1126/science.279.5348.242} } @article{kalman1997-9325475, author = {Kálmán, J. and Juhász, A. and Laird, G. and Dickens, P. and Járdánházy, T. and Rimanóczy, A. and Boncz, I. and Parry-Jones, W. L. and others}, title = {{Serum interleukin-6 levels correlate with the severity of dementia in Down syndrome and in Alzheimer's disease}}, journal = {Acta neurologica Scandinavica}, year = {1997}, doi = {10.1111/j.1600-0404.1997.tb00275.x}, pmid = {9325475}, url = {https://doi.org/10.1111/j.1600-0404.1997.tb00275.x} } @article{busciglio1995-8524410, author = {Busciglio, J. and Yankner, B. A.}, title = {{Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro}}, journal = {Nature}, year = {1995}, doi = {10.1038/378776a0}, pmid = {8524410}, url = {https://doi.org/10.1038/378776a0} } @article{west1995-8746452, author = {West, R. L. and Lee, J. M. and Maroun, L. E.}, title = {{Hypomethylation of the amyloid precursor protein gene in the brain of an Alzheimer's disease patient}}, journal = {Journal of molecular neuroscience : MN}, year = {1995}, doi = {10.1007/bf02736773}, pmid = {8746452}, url = {https://doi.org/10.1007/bf02736773} } @article{lamb1993-8220418, author = {Lamb, B. T. and Sisodia, S. S. and Lawler, A. M. and Slunt, H. H. and Kitt, C. A. and Kearns, W. G. and Pearson, P. L. and Price, D. L. and others}, title = {{Introduction and expression of the 400 kilobase amyloid precursor protein gene in transgenic mice [corrected]}}, journal = {Nature genetics}, year = {1993}, doi = {10.1038/ng0993-22}, pmid = {8220418}, url = {https://doi.org/10.1038/ng0993-22} } @article{myers1991-1833506, author = {Myers, B. A. and Pueschel, S. M.}, title = {{Psychiatric disorders in persons with Down syndrome}}, journal = {The Journal of nervous and mental disease}, year = {1991}, doi = {10.1097/00005053-199110000-00004}, pmid = {1833506}, url = {https://doi.org/10.1097/00005053-199110000-00004} } @article{mann1989-2522541, author = {Mann, D. M. and Esiri, M. M.}, title = {{The pattern of acquisition of plaques and tangles in the brains of patients under 50 years of age with Down's syndrome}}, journal = {Journal of the neurological sciences}, year = {1989}, doi = {10.1016/0022-510x(89)90019-1}, pmid = {2522541}, url = {https://doi.org/10.1016/0022-510x(89)90019-1} } @article{delabar1987-2950593, author = {Delabar, J. M. and Goldgaber, D. and Lamour, Y. and Nicole, A. and Huret, J. L. and de Grouchy, J. and Brown, P. and Gajdusek, D. C. and others}, title = {{Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome}}, journal = {Science (New York, N.Y.)}, year = {1987}, doi = {10.1126/science.2950593}, pmid = {2950593}, url = {https://doi.org/10.1126/science.2950593} } @article{stgeorgehyslop1987-2880399, author = {St George-Hyslop, P. H. and Tanzi, R. E. and Polinsky, R. J. and Haines, J. L. and Nee, L. and Watkins, P. C. and Myers, R. H. and Feldman, R. G. and others}, title = {{The genetic defect causing familial Alzheimer's disease maps on chromosome 21}}, journal = {Science (New York, N.Y.)}, year = {1987}, doi = {10.1126/science.2880399}, pmid = {2880399}, url = {https://doi.org/10.1126/science.2880399} } @article{coyle1986-2875770, author = {Coyle, J. T. and Oster-Granite, M. L. and Gearhart, J. D.}, title = {{The neurobiologic consequences of Down syndrome}}, journal = {Brain research bulletin}, year = {1986}, doi = {10.1016/0361-9230(86)90074-2}, pmid = {2875770}, url = {https://doi.org/10.1016/0361-9230(86)90074-2} }