Rare autosomal copy number variations in early-onset familial Alzheimer’s disease
Open accessAbstract
Over 200 rare and fully penetrant pathogenic mutations in amyloid precursor protein (APP), presenilin 1 and 2 (PSEN1 and PSEN2) cause a subset of early-onset familial Alzheimer's disease (EO-FAD). Of these, 21 cases of EO-FAD families carrying unique APP locus duplications remain the only pathogenic copy number variations (CNVs) identified to date in Alzheimer's disease (AD). Using high-density DNA microarrays, we performed a comprehensive genome-wide analysis for the presence of rare CNVs in 261 EO-FAD and early/mixed-onset pedigrees. Our analysis revealed 10 novel private CNVs in 10 EO-FAD families overlapping a set of genes that includes: A2BP1, ABAT, CDH2, CRMP1, DMRT1, EPHA5, EPHA6, ERMP1, EVC, EVC2, FLJ35024 and VLDLR. In addition, CNVs encompassing two known frontotemporal dementia genes, CHMP2B and MAPT were found. To our knowledge, this is the first study reporting rare gene-rich CNVs in EO-FAD and early/mixed-onset AD that are likely to underlie pathogenicity in familial AD and perhaps related dementias.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Rare autosomal CNVs in genes besides APP have been implicated in EOAD.
“Rare autosomal CNVs in genes besides APP have been implicated in EOAD [252]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [252]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892 · see citing works
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
Structural variation in the human genome
Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,051 · see citing works
α-synuclein locus duplication as a cause of familial Parkinson's disease
Chartier-Harlin, M.-C., Kachergus, J., Roumier, C., Mouroux, V., Douay, X., Lincoln, S., Levecque, C., Larvor, L., Andrieux, J., Hulihan, M., et al. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17103-1 · Cited by 2,029 · see citing works
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database
Bertram, L., McQueen, M. B., Mullin, K., Blacker, D., & Tanzi, R. E. (2007) · Nature Genetics · doi:10.1038/ng1934 · Cited by 1,857 · see citing works
Self-citationTwenty years of the Alzheimer's disease amyloid hypothesis: a genetic perspective
Tanzi, R. E., & Bertram, L. (2005) · Cell · doi:10.1016/j.cell.2005.02.008 · Cited by 1,849 · see citing works
Self-citationRole of Genes and Environments for Explaining Alzheimer Disease
Gatz, M., Reynolds, C. A., Fratiglioni, L., Johansson, B., Mortimer, J. A., Berg, S., Fiske, A., & Pedersen, N. L. (2006) · Archives of General Psychiatry · doi:10.1001/archpsyc.63.2.168 · Cited by 1,798 · see citing works
Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S. F. A., Hakonarson, H., & Bucan, M. (2007) · Genome Research · doi:10.1101/gr.6861907 · Cited by 1,792 · see citing works
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Stranger, B. E., Forrest, M. S., Dunning, M., Ingle, C., Beazley, C., Thorne, N., Redon, R., Bird, C., Grassi, A., Lee, C., et al. (2007) · Science · doi:10.1126/science.1136678 · Cited by 1,709 · see citing works
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works
Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,249 · see citing works
The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility
Gonzalez, E., Kulkarni, H. R., Bolivar, H., Mangano, A. M., Sanchez, R., Catano, G., Nibbs, R. J. B., Freedman, B. I., Quinones, M. P., Bamshad, M. J., et al. (2005) · Science · doi:10.1126/science.1101160 · Cited by 1,127 · see citing works
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
Solinas‐Toldo, S., Lampel, S., Stilgenbauer, S., Nickolenko, J., Benner, A., Döhner, H., Cremer, T. J., & Lichter, P. (1997) · Genes Chromosomes and Cancer · doi:10.1002/(sici)1098-2264(199712)20:4 · Cited by 993 · see citing works
The Genetics of Alzheimer Disease: Back to the Future
Bertram, L., Lill, C. M., & Tanzi, R. E. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.013 · Cited by 834 · see citing works
Self-citationThe Genetics of Alzheimer's Disease
Bertram, L., & Tanzi, R. E. (2012) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-385883-2.00008-4 · Cited by 784 · see citing works
Self-citationRare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Vacic, V., McCarthy, S., Malhotra, D., Murray, F., Chou, H.-H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., et al. (2011) · Nature · doi:10.1038/nature09884 · Cited by 337 · see citing works
Towards a comprehensive structural variation map of an individual human genome
Pang, A. W., MacDonald, J. R., Pinto, D., Wei, J., Rafiq, M. A., Conrad, D. F., Park, H., Hurles, M. E., Lee, C., Venter, J. C., et al. (2010) · Genome Biology · doi:10.1186/gb-2010-11-5-r52 · Cited by 335 · see citing works
Phenotypic variability and genetic susceptibility to genomic disorders
Girirajan, S., & Eichler, E. E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq366 · Cited by 271 · see citing works
The CRMP Family of Proteins and Their Role in Sema3A Signaling
Schmidt, E. F., & Strittmatter, S. M. (2007) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-70956-7_1 · Cited by 206 · see citing works
Zhang, J., Feuk, L., Duggan, G. E., Khaja, R., & Scherer, S. W. (2006) · Cytogenetic and Genome Research · doi:10.1159/000095916 · Cited by 204 · see citing works
Bassett, A. S., Scherer, S. W., & Brzustowicz, L. M. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2009.09071016 · Cited by 201 · see citing works
Martin, C. L., Duvall, J. A., Ilkin, Y., Simon, J. S., Arreaza, M. G., Wilkes, K., Alvarez‐Retuerto, A., Whichello, A., Powell, C. M., Rao, K., et al. (2007) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30530 · Cited by 198 · see citing works
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
Ionita-Laza, I., Rogers, A. J., Lange, C., Raby, B. A., & Lee, C. (2009) · Genomics · doi:10.1016/j.ygeno.2008.08.012 · Cited by 198 · see citing works
Self-citationThe eph receptor family:axonal guidance by contact repulsion
Orioli, D., & Klein, R. (1997) · Trends in Genetics · doi:10.1016/s0168-9525(97)01220-1 · Cited by 190 · see citing works
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
Urwin, H., Authier, A., Nielsen, J. E., Metcalf, D. J., Powell, C., Froud, K. E., Malcolm, D. S., Holm, I. E., Johannsen, P., Brown, J. M., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq100 · Cited by 189 · see citing works
The clinical context of copy number variation in the human genome
Lee, C., & Scherer, S. W. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399410001390 · Cited by 182 · see citing works
Barnby, G., Abbott, A., Sykes, N., Morris, A. P., Weeks, D. E., Mott, R., Lamb, J. A., Bailey, A. J., & Monaco, A. P. (2005) · The American Journal of Human Genetics · doi:10.1086/430454 · Cited by 180 · see citing works
Replication Study Supports Evidence for Linkage to 9p24 in Obsessive-Compulsive Disorder
Willour, V. L., Shugart, Y. Y., SAMUELS, J. F., Grados, M. A., Cullen, B., Bienvenu, O. J., Wang, Y., Liang, K., Valle, D. L., Hoehn‐Saric, R., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/423899 · Cited by 170 · see citing works
Human uniqueness: genome interactions with environment, behaviour and culture
Varki, A. P., Geschwind, D. H., & Eichler, E. E. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2428 · Cited by 168 · see citing works
Cole, A. R., Noble, W. J., van Aalten, L., Plattner, F., Meimaridou, R., Hogan, D., Taylor, M., LaFrancois, J. J., Gunn‐Moore, F. J., Verkhratsky, A., et al. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.04829.x · Cited by 166 · see citing works
Carter, C. J. (2006) · Neurochemistry International · doi:10.1016/j.neuint.2006.07.007 · Cited by 148 · see citing works
Good, P. F., Alapat, D. V., Hsu, A., Chu, C., Perl, D. P., Wen, X., Burstein, D., & Kohtz, D. S. (2004) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2004.02766.x · Cited by 147 · see citing works
Bhalla, K., Phillips, H. A., Crawford, J., McKenzie, O. L. D., Mulley, J. C., Eyre, H., Gardner, A. E., Kremmidiotis, G., & Callen, D. F. (2004) · Journal of Human Genetics · doi:10.1007/s10038-004-0145-4 · Cited by 146 · see citing works
Turton, J. P. G., Reynaud, R., Mehta, A., Torpiano, J. G., Saveanu, A., Woods‐Townsend, K., Tiulpakov, A. N., Zdravković, V., Hamilton, J., Attard-Montalto, S., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0570 · Cited by 134 · see citing works
Emerging topics in Reelin function
Förster, E., Bock, H. H., Herz, J., Chai, X., Frotscher, M., & Zhao, S. (2010) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2010.07222.x · Cited by 130 · see citing works
Funk, K. E., Mrak, R. E., & Kuret, J. (2010) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2010.01135.x · Cited by 123 · see citing works
Malinverno, M., Carta, M., Epis, R., Marcello, E. E., Verpelli, C., Cattabeni, F., Sala, C., Mulle, C., Luca, M. D., & Gardoni, F. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.1984-10.2010 · Cited by 116 · see citing works
Martin, B., Brenneman, R., Becker, K. G., Guček, M., Cole, R. N., & Maudsley, S. R. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002750 · Cited by 113 · see citing works
Bruno, R., Sabater, L., Sospedra, M., Ferrer-Francesch, X., Escudero, D., Martínez-Cáceres, E. M., & Pujol‐Borrell, R. (2002) · European Journal of Immunology · doi:10.1002/1521-4141(2002010)32:10 · Cited by 102 · see citing works
Studying copy number variations using a nanofluidic platform
Qin, J., Jones, R. C., & Ramakrishnan, R. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn518 · Cited by 102 · see citing works
Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease
Weterman, M. A. J., van Ruissen, F., de Wissel, M. B., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.186 · Cited by 90 · see citing works
Collapsin Response Mediator Protein 1 Mediates Reelin Signaling in Cortical Neuronal Migration
Yamashita, N., Uchida, Y., Ohshima, T., Hirai, S.-I., Nakamura, F., Taniguchi, M., Mikoshiba, K., Honnorat, J., Kolattukudy, P. E., Thomasset, N., et al. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.4276-06.2006 · Cited by 88 · see citing works
Cadherin-2 Controls Directional Chain Migration of Cerebellar Granule Neurons
Rieger, S., Senghaas, N., Walch, A. K., & Köster, R. W. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000240 · Cited by 87 · see citing works
Farahani, R., Pina-Benabou, M. H. D., Kyrozis, A., Siddiq, A., Barradas, P. C., Chiu, F., Cavalcante, L. A., Lai, J. C. K., Stanton, P. K., & Rozental, R. (2005) · Glia · doi:10.1002/glia.20213 · Cited by 87 · see citing works
Role of common and rare <i>APP</i> DNA sequence variants in Alzheimer disease
Hooli, B. V., Mohapatra, G., Mattheisen, M., Parrado, A. R., Roehr, J. T., Shen, Y., Gusella, J. F., Moir, R., Saunders, A. J., Lange, C., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e3182515972 · Cited by 87 · see citing works
Self-citationTan, Z.-J., Peng, Y. W., Song, H., Zheng, J.-J., & Yu, X. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1003480107 · Cited by 87 · see citing works
Kauwe, J. S. K., Jacquart, S., Chakraverty, S., Wang, J., Mayo, K., Fagan, A. M., Holtzman, D. M., Morris, J. C., & Goate, A. M. (2007) · Annals of Neurology · doi:10.1002/ana.21099 · Cited by 84 · see citing works
Gap Junctions and Neuronal Injury: Protectants or Executioners?
Velázquez, J. L. P., Frantseva, M. V., & Naus, C. C. G. (2003) · The Neuroscientist · doi:10.1177/1073858402239586 · Cited by 77 · see citing works
Maiti, S., Kumar, K. H. B. G., Castellani, C. A., O’Reilly, R., & Singh, S. M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017125 · Cited by 72 · see citing works
N-cadherin Regulates p38 MAPK Signaling via Association with JNK-associated Leucine Zipper Protein
Ando, K., Uemura, K., Kuzuya, A., Maesako, M., Asada-Utsugi, M., Kubota, M., Aoyagi, N., Yoshioka, K., Okawa, K., Inoue, H., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.158477 · Cited by 66 · see citing works
Yamazaki, Y., Takahashi, T., Hiji, M., Kurashige, T., Izumi, Y., Yamawaki, T., & Matsumoto, M. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2010.04.038 · Cited by 64 · see citing works
N-cadherin and Neuroligins Cooperate to Regulate Synapse Formation in Hippocampal Cultures
Aiga, M., Levinson, J. N., & Bamji, S. X. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.176305 · Cited by 63 · see citing works
Frontotemporal Dementia Phenotype Associated with MAPT Gene Duplication
Rovelet‐Lecrux, A., Hannequin, D., Guillin, O., Legallic, S., Jurici, S., Wallon, D., Frébourg, T., & Campion, D. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-100441 · Cited by 54 · see citing works
C-terminal fragment of N-cadherin accelerates synapse destabilization by amyloid-β
Andreyeva, A., Nieweg, K., Horstmann, K., Klapper, S. D., Müller‐Schiffmann, A., Korth, C., & Gottmann, K. (2012) · Brain · doi:10.1093/brain/aws120 · Cited by 51 · see citing works
No Association between CALHM1 and Alzheimer's Disease Risk
Bertram, L., Schjeide, B. M., Hooli, B. V., et al. (2008) · Cell · doi:10.1016/j.cell.2008.11.030 · Cited by 49 · see citing works
Self-citationLearning and memory impairment in Eph receptor A6 knockout mice
Savelieva, K. V., Rajan, I., Baker, K. B., et al. (2008) · Neuroscience Letters · doi:10.1016/j.neulet.2008.04.013 · Cited by 48 · see citing works
Pagnamenta, A. T., Holt, R., Yusuf, M., Pinto, D., Wing, K., Betancur, C., Scherer, S. W., Volpi, E. V., & Monaco, A. P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9076-5 · Cited by 47 · see citing works
Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., & Benson, D. W. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp098 · Cited by 45 · see citing works
Kurnellas, M., Li, H., Jain, M. R., et al. (2010) · Cell Death and Differentiation · doi:10.1038/cdd.2010.54 · Cited by 45 · see citing works
N-cadherin Cell-Cell Adhesion Complexes Are Regulated by Fibronectin Matrix Assembly
Lefort, C. T., Wojciechowski, K., & Hocking, D. C. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.115733 · Cited by 40 · see citing works
Fine mapping of an epilepsy modifier gene on mouse Chromosome 19
Bergren, S. K., Rutter, E. D., & Kearney, J. A. (2009) · Mammalian Genome · doi:10.1007/s00335-009-9193-6 · Cited by 38 · see citing works
Mukherjee, J., DeSouza, L. V., Micallef, J., et al. (2009) · Cancer Research · doi:10.1158/0008-5472.can-09-1778 · Cited by 31 · see citing works
Genomic copy number variations in three Southeast Asian populations
Ku, C., Yudi Pawitan, Y., Sim, X., Ong, R. T., Seielstad, M. T., Lee, E. J. D., Teo, Y., Chia, K. S., & Salim, A. (2010) · Human Mutation · doi:10.1002/humu.21287 · Cited by 27 · see citing works
Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150
Akiyama, M., Ishida, N., Ogawa, T., et al. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.08.019 · Cited by 25 · see citing works
Copy number variations involving the microtubule-associated protein tau in human diseases
Rovelet‐Lecrux, A., & Campion, D. (2012) · Biochemical Society Transactions · doi:10.1042/bst20120045 · Cited by 22 · see citing works
Hammock, E. A. D., & Levitt, P. (2011) · Developmental Neuroscience · doi:10.1159/000323732 · Cited by 21 · see citing works
Hayashi, S., Imoto, I., Aizu, Y., Okamoto, N., Mizuno, S., Kurosawa, K., Okamoto, N., Honda, S., Araki, S., Mizutani, S., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.129 · Cited by 20 · see citing works
A current view of Alzheimer's disease
Hooli, B. V., & Tanzi, R. E. (2009) · F1000 Biology Reports · doi:10.3410/b1-54 · Cited by 14 · see citing works
Self-citationde Andrade, M., Atkinson, E. J., Bamlet, W. R., et al. (2011) · Human Heredity · doi:10.1159/000328843 · Cited by 9 · see citing works
Wegerer, M., Adena, S., Pfennig, A., Czamara, D., Sailer, U., Bettecken, T., Müller‐Myhsok, B., Modell, S., & Ising, M. (2012) · Psychological Medicine · doi:10.1017/s0033291711002923 · Cited by 8 · see citing works
Sun, Y., Zhang, F., Gao, J., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl039 · Cited by 6 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- Townson JR, Barcellos LF, Nibbs RJ. Gene copy number regulates the production of the human chemokine CCL3-L1. Eur J Immunol 2002; 32: 3016-3026.
- Mohapatra G, Moore DH, Kim DH, Grewal L, Hyun WC, Waldman FM et al. Analyses of brain tumor cell lines confirm a simple model of relationships among fluor- escence in situ hybridization, DNA index, and comparative genomic hybridization. Genes Chromosomes Cancer 1997; 20: 311-319.
Cited by
Sorted by citations
Somatic APP gene recombination in Alzheimer’s disease and normal neurons
Lee, M.-H., Siddoway, B., Kaeser, G. E., Segota, I., Rivera, R., Romanow, W. J., Liu, C. S., Park, C., Kennedy, G., Long, T., et al. (2018) · Nature · doi:10.1038/s41586-018-0718-6 · Cited by 210 · see citing works
APP Metabolism Regulates Tau Proteostasis in Human Cerebral Cortex Neurons.
Moore, S., Evans, L. D. B., Andersson, T., Portelius, E., Smith, J., Dias, T. B., Saurat, N., McGlade, A., Kirwan, P., Blennow, K., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.03.068 · Cited by 179 · see citing works
Genetic architecture of Alzheimer's disease
Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126 · see citing works
“Given the overlap between EOAD and LOAD as discussed above, these modifiers may provide potential therapeutic targets for a more general population.”
BackgroundInfluentialAβ accumulation causes MVB enlargement and is modelled by dominant negative VPS4A
Willén, K., Edgar, J. R., Hasegawa, T., Tanaka, N., Futter, C. E., & Gouras, G. K. (2017) · Molecular Neurodegeneration · doi:10.1186/s13024-017-0203-y · Cited by 86 · see citing works
- Authors
- Hooli, B. V., Kovacs-Vajna, Z. M., Mullin, K., Blumenthal, M. A., Mattheisen, M., Zhang, C., Lange, C., Mohapatra, G., Bertram, L., & Tanzi, R. E.
- Affiliations
- Massachusetts General Hospital (US)
- University of Brescia (IT)
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Max Planck Society (DE)
- Corresponding author
- Tanzi, R E
- Venue
- Molecular Psychiatry
- Published
- 2013-06-11
- Volume
- 19
- Issue
- 6
- Pages
- 676-681
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2082651728
- Cited by
- 100
- References
- 72
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 5 · 2023: 7 · 2022: 12 · 2021: 15 · 2020: 4 · 2019: 9 · 2018: 14 · 2017: 6 · 2016: 10 · 2015: 8 · 2014: 6 · 2013: 1
- FWCI
- 5.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Max Planck Digital Library (submittedVersion, other-oa)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- Lundbeckfonden (R155-2014-1724)
- National Institute on Aging (U24AG021886)
- National Institute of Mental Health
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- early-onset familial Alzheimer's disease, copy number variation, amyloid precursor protein, presenilin 1, presenilin 2, A2BP1, 4-aminobutyrate aminotransferase, N-cadherin, CRMP1, DMRT1, EphA5, EPHA6, EVC, EVC2, VLDLR, CHMP2B, MAPT, frontotemporal dementia, early-onset Alzheimer's disease
- MeSH terms
- Adult, Aged, Alzheimer Disease, Family, Female, Humans, Male, Middle Aged, Pedigree, Cohort Studies, Age of Onset, Oligonucleotide Array Sequence Analysis, DNA Copy Number Variations
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
