{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T12:47:26Z","timestamp":1790686046520,"version":"4.1.0"},"reference-count":118,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trends in Neurosciences"],"published-print":{"date-parts":[[2009,8]]},"DOI":"10.1016\/j.tins.2009.05.005","type":"journal-article","created":{"date-parts":[[2009,7,28]],"date-time":"2009-07-28T18:34:07Z","timestamp":1248806047000},"page":"451-461","source":"Crossref","is-referenced-by-count":44,"title":["Recent insights into the molecular genetics of dementia"],"prefix":"10.1016","volume":"32","author":[{"given":"Rosa","family":"Rademakers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Rovelet-Lecrux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tins.2009.05.005_bib1","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1016\/S0140-6736(05)67889-0","article-title":"Global prevalence of dementia: a Delphi consensus study","volume":"366","author":"Ferri","year":"2005","journal-title":"Lancet"},{"key":"10.1016\/j.tins.2009.05.005_bib2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1093\/oxfordjournals.epirev.a036092","article-title":"Epidemiology of Alzheimer's disease","volume":"14","author":"Breteler","year":"1992","journal-title":"Epidemiol. Rev."},{"issue":"Suppl.","key":"10.1016\/j.tins.2009.05.005_bib3","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1038\/nm1066","article-title":"Protein aggregation and neurodegenerative disease","volume":"10","author":"Ross","year":"2004","journal-title":"Nat. Med."},{"key":"10.1016\/j.tins.2009.05.005_bib4","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S1474-4422(03)00619-7","article-title":"Dementia with Lewy bodies","volume":"3","author":"McKeith","year":"2004","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib5","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1055\/s-2006-956755","article-title":"Frontotemporal dementia","volume":"27","author":"Graff-Radford","year":"2007","journal-title":"Semin. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib6","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s00401-006-0138-9","article-title":"Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype","volume":"112","author":"Mackenzie","year":"2006","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.tins.2009.05.005_bib7","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.2353\/ajpath.2006.060438","article-title":"Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies","volume":"169","author":"Sampathu","year":"2006","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.tins.2009.05.005_bib8","first-page":"15","article-title":"Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations","volume":"1171","author":"MackenzieF I.R.","year":"2008","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.tins.2009.05.005_bib9","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1212\/01.wnl.0000327523.52537.86","article-title":"Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum","volume":"71","author":"van der Zee","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2009.05.005_bib10","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s11910-008-0030-1","article-title":"Recent advances in the genetics of dementia with lewy bodies","volume":"8","author":"Bonifati","year":"2008","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.tins.2009.05.005_bib11","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.ncl.2007.03.001","article-title":"Dementia with Lewy bodies","volume":"25","author":"Ferman","year":"2007","journal-title":"Neurol. Clin."},{"key":"10.1016\/j.tins.2009.05.005_bib12","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1097\/GIM.0b013e31816b64dc","article-title":"Genetic aspects of Alzheimer disease","volume":"10","author":"Bird","year":"2008","journal-title":"Genet. Med."},{"key":"10.1016\/j.tins.2009.05.005_bib13","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1086\/302553","article-title":"Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum","volume":"65","author":"Campion","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib14","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/349704a0","article-title":"Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease","volume":"349","author":"Goate","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.tins.2009.05.005_bib15","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1126\/science.7638622","article-title":"Candidate gene for the chromosome 1 familial Alzheimer's disease locus","volume":"269","author":"Levy-Lahad","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.tins.2009.05.005_bib16","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/375754a0","article-title":"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease","volume":"375","author":"Sherrington","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.tins.2009.05.005_bib17","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0896-6273(03)00205-8","article-title":"Aph-1, Pen-2, and Nicastrin with Presenilin generate an active gamma-Secretase complex","volume":"38","author":"De Strooper","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.tins.2009.05.005_bib18","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/S0166-2236(96)01030-2","article-title":"Amyloid, the presenilins and Alzheimer's disease","volume":"20","author":"Hardy","year":"1997","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.tins.2009.05.005_bib19","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1016\/j.biocel.2008.12.015","article-title":"Reassessing the amyloid cascade hypothesis of Alzheimer's disease","volume":"41","author":"Pimplikar","year":"2009","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.tins.2009.05.005_bib20","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/j.tins.2008.06.005","article-title":"Neuronal calcium mishandling and the pathogenesis of Alzheimer's disease","volume":"31","author":"Bezprozvanny","year":"2008","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.tins.2009.05.005_bib21","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.neuron.2008.11.007","article-title":"Linking A\u03b2 and tau in late-onset Alzheimer's disease: a dual pathway hypothesis","volume":"60","author":"Small","year":"2008","journal-title":"Neuron"},{"key":"10.1016\/j.tins.2009.05.005_bib22","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1073\/pnas.90.5.1977","article-title":"Apolipoprotein E: high-avidity binding to \u03b2-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease","volume":"90","author":"Strittmatter","year":"1993","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tins.2009.05.005_bib23","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1001\/jama.278.16.1349","article-title":"Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium","volume":"278","author":"Farrer","year":"1997","journal-title":"J. Am. Med. Assoc."},{"key":"10.1016\/j.tins.2009.05.005_bib24","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1126\/science.8346443","article-title":"Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families","volume":"261","author":"Corder","year":"1993","journal-title":"Science"},{"key":"10.1016\/j.tins.2009.05.005_bib25","doi-asserted-by":"crossref","first-page":"5644","DOI":"10.1073\/pnas.0600549103","article-title":"Apolipoprotein E4: a causative factor and therapeutic target in neuropathology, including Alzheimer's disease","volume":"103","author":"Mahley","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tins.2009.05.005_bib26","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1212\/WNL.0b013e3181a2e8d0","article-title":"Effect of APOE genotype on amyloid plaque load and gray matter volume in Alzheimer disease","volume":"72","author":"Drzezga","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2009.05.005_bib27","doi-asserted-by":"crossref","first-page":"6820","DOI":"10.1073\/pnas.0900345106","article-title":"Fibrillar amyloid-\u03b2 burden in cognitively normal people at 3 levels of genetic risk for Alzheimer's disease","volume":"106","author":"Reiman","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tins.2009.05.005_bib28","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1007\/s11910-007-0067-6","article-title":"The genetics of frontotemporal lobar degeneration","volume":"7","author":"Rademakers","year":"2007","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.tins.2009.05.005_bib29","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/nature05016","article-title":"Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17","volume":"442","author":"Baker","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.tins.2009.05.005_bib30","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1038\/nature05017","article-title":"Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21","volume":"442","author":"Cruts","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.tins.2009.05.005_bib31","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1038\/ng1609","article-title":"Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia","volume":"37","author":"Skibinski","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib32","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng1332","article-title":"Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein","volume":"36","author":"Watts","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib33","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1212\/01.wnl.0000200048.53766.b4","article-title":"A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia","volume":"66","author":"Morita","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2009.05.005_bib34","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1093\/brain\/awl030","article-title":"Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3","volume":"129","author":"Vance","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.tins.2009.05.005_bib35","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1677\/joe.0.1580145","article-title":"Granulins: the structure and function of an emerging family of growth factors","volume":"158","author":"Bateman","year":"1998","journal-title":"J. Endocrinol."},{"key":"10.1016\/j.tins.2009.05.005_bib36","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1073\/pnas.89.5.1715","article-title":"Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains","volume":"89","author":"Bhandari","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tins.2009.05.005_bib37","doi-asserted-by":"crossref","first-page":"13073","DOI":"10.1016\/S0021-9258(18)42382-4","article-title":"The epithelin precursor encodes two proteins with opposing activities on epithelial cell growth","volume":"267","author":"Plowman","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2009.05.005_bib38","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/nsb0996-747","article-title":"The hairpin stack fold, a novel protein architecture for a new family of protein growth factors","volume":"3","author":"Hrabal","year":"1996","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.tins.2009.05.005_bib39","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1007\/s00109-003-0474-3","article-title":"Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis","volume":"81","author":"He","year":"2003","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.tins.2009.05.005_bib40","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/nm816","article-title":"Progranulin is a mediator of the wound response","volume":"9","author":"He","year":"2003","journal-title":"Nat. Med."},{"key":"10.1016\/j.tins.2009.05.005_bib41","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1083\/jcb.200712039","article-title":"Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival","volume":"181","author":"Van Damme","year":"2008","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.tins.2009.05.005_bib42","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1002\/humu.20785","article-title":"Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update","volume":"29","author":"Gijselinck","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2009.05.005_bib43","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.tig.2008.01.004","article-title":"Loss of progranulin function in frontotemporal lobar degeneration","volume":"24","author":"Cruts","year":"2008","journal-title":"Trends Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib44","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/humu.20651","article-title":"Progranulin locus deletion in frontotemporal dementia","volume":"29","author":"Gijselinck","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2009.05.005_bib45","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/ana.20963","article-title":"HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin","volume":"60","author":"Mukherjee","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib46","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1074\/jbc.M705115200","article-title":"FTLD-U linked missense mutations in the progranulin gene reduce progranulin production and secretion","volume":"283","author":"Shankaran","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2009.05.005_bib47","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1093\/brain\/awn352","article-title":"Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members","volume":"132","author":"Finch","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.tins.2009.05.005_bib48","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1002\/ana.21621","article-title":"Serum biomarker for progranulin-associated frontotemporal lobar degeneration","volume":"65","author":"Sleegers","year":"2009","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib49","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1001\/archneur.64.10.1436","article-title":"Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family","volume":"64","author":"Brouwers","year":"2007","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib50","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1212\/01.wnl.0000319688.89790.7a","article-title":"Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease","volume":"71","author":"Brouwers","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2009.05.005_bib51","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1002\/ajmg.b.30889","article-title":"An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population","volume":"150B","author":"Viswanathan","year":"2009","journal-title":"Am. J. Med. Genet. B. Neuropsychiatr. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib52","doi-asserted-by":"crossref","DOI":"10.1212\/01.wnl.0000289191.54852.75","article-title":"Progranulin genetic variability contributes to amyotrophic lateral sclerosis","author":"Sleegers","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2009.05.005_bib53","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","article-title":"Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"314","author":"Neumann","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.tins.2009.05.005_bib54","doi-asserted-by":"crossref","first-page":"3081","DOI":"10.1093\/brain\/awl271","article-title":"The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene","volume":"129","author":"Mackenzie","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.tins.2009.05.005_bib55","doi-asserted-by":"crossref","first-page":"10530","DOI":"10.1523\/JNEUROSCI.3421-07.2007","article-title":"Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43","volume":"27","author":"Zhang","year":"2007","journal-title":"J. Neurosci."},{"key":"10.1016\/j.tins.2009.05.005_bib56","doi-asserted-by":"crossref","first-page":"867","DOI":"10.2741\/2727","article-title":"Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease","volume":"13","author":"Buratti","year":"2008","journal-title":"Front. Biosci."},{"key":"10.1016\/j.tins.2009.05.005_bib57","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/nature03120","article-title":"The Microprocessor complex mediates the genesis of microRNAs","volume":"432","author":"Gregory","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.tins.2009.05.005_bib58","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/ana.21154","article-title":"TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease","volume":"61","author":"Amador-Ortiz","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib59","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.brainres.2007.09.048","article-title":"Concurrence of TDP-43, tau and \u03b1-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies","volume":"1184","author":"Higashi","year":"2007","journal-title":"Brain Res."},{"key":"10.1016\/j.tins.2009.05.005_bib60","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00401-007-0261-2","article-title":"Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases","volume":"114","author":"Nakashima-Yasuda","year":"2007","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.tins.2009.05.005_bib61","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1097\/WCO.0b013e3283168d1d","article-title":"The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia","volume":"21","author":"Mackenzie","year":"2008","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib62","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/ng.132","article-title":"TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis","volume":"40","author":"Kabashi","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib63","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1126\/science.1154584","article-title":"TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis","volume":"319","author":"Sreedharan","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.tins.2009.05.005_bib64","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/ana.21612","article-title":"TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration","volume":"65","author":"Benajiba","year":"2009","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib65","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1002\/humu.20950","article-title":"High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis","volume":"30","author":"Corrado","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2009.05.005_bib66","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng1416","article-title":"Detection of large-scale variation in the human genome","volume":"36","author":"Iafrate","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib67","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/nature05329","article-title":"Global variation in copy number in the human genome","volume":"444","author":"Redon","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.tins.2009.05.005_bib68","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/nrg1767","article-title":"Structural variation in the human genome","volume":"7","author":"Feuk","year":"2006","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib69","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1016\/S0140-6736(04)17103-1","article-title":"\u03b1-Synuclein locus duplication as a cause of familial Parkinson's disease","volume":"364","author":"Chartier-Harlin","year":"2004","journal-title":"Lancet"},{"key":"10.1016\/j.tins.2009.05.005_bib70","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1090278","article-title":"\u03b1-Synuclein locus triplication causes Parkinson's disease","volume":"302","author":"Singleton","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.tins.2009.05.005_bib71","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1212\/WNL.35.7.957","article-title":"Alzheimer's disease in Down's syndrome: clinicopathologic studies","volume":"35","author":"Wisniewski","year":"1985","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2009.05.005_bib72","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng1718","article-title":"APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy","volume":"38","author":"Rovelet-Lecrux","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib73","doi-asserted-by":"crossref","first-page":"2977","DOI":"10.1093\/brain\/awl203","article-title":"APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy","volume":"129","author":"Sleegers","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.tins.2009.05.005_bib74","doi-asserted-by":"crossref","first-page":"2984","DOI":"10.1093\/brain\/awl212","article-title":"Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease","volume":"129","author":"Brouwers","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.tins.2009.05.005_bib75","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1086\/504044","article-title":"Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease","volume":"78","author":"Theuns","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib76","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1212\/01.wnl.0000255938.33739.46","article-title":"Variations in the APP gene promoter region and risk of Alzheimer disease","volume":"68","author":"Guyant-Marechal","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2009.05.005_bib77","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.neurobiolaging.2006.10.001","article-title":"Promoter polymorphisms which modulate APP expression may increase susceptibility to Alzheimer's disease","volume":"29","author":"Lv","year":"2008","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.tins.2009.05.005_bib78","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/nm0498-452","article-title":"A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1","volume":"4","author":"Crook","year":"1998","journal-title":"Nat. Med."},{"key":"10.1016\/j.tins.2009.05.005_bib79","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.nbd.2008.03.004","article-title":"Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease","volume":"31","author":"Rovelet-Lecrux","year":"2008","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.tins.2009.05.005_bib80","doi-asserted-by":"crossref","first-page":"E591","DOI":"10.1002\/humu.20979","article-title":"Partial deletion of the MAPT gene: a novel mechanism of FTDP-17","volume":"30","author":"Rovelet-Lecrux","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2009.05.005_bib81","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng1853","article-title":"A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism","volume":"38","author":"Koolen","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib82","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ng1862","article-title":"Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome","volume":"38","author":"Sharp","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib83","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ng1858","article-title":"Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability","volume":"38","author":"Shaw-Smith","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib84","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/S0092-8674(01)00616-X","article-title":"microRNAs: tiny regulators with great potential","volume":"107","author":"Ambros","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.tins.2009.05.005_bib85","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1146\/annurev.cellbio.23.090506.123406","article-title":"microRNA functions","volume":"23","author":"Bushati","year":"2007","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.tins.2009.05.005_bib86","doi-asserted-by":"crossref","first-page":"R13","DOI":"10.1186\/gb-2004-5-3-r13","article-title":"Expression profiling of mammalian microRNAs uncovers a subset of brain-expressed microRNAs with possible roles in murine and human neuronal differentiation","volume":"5","author":"Sempere","year":"2004","journal-title":"Genome Biol."},{"key":"10.1016\/j.tins.2009.05.005_bib87","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1523\/JNEUROSCI.5065-07.2008","article-title":"The expression of microRNA miR-107 decreases early in Alzheimer's disease and may accelerate disease progression through regulation of \u03b2-site amyloid precursor protein-cleaving enzyme 1","volume":"28","author":"Wang","year":"2008","journal-title":"J. Neurosci."},{"key":"10.1016\/j.tins.2009.05.005_bib88","doi-asserted-by":"crossref","first-page":"6415","DOI":"10.1073\/pnas.0710263105","article-title":"Loss of microRNA cluster miR-29a\/b-1 in sporadic Alzheimer's disease correlates with increased BACE1\/\u03b2-secretase expression","volume":"105","author":"Hebert","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tins.2009.05.005_bib89","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1074\/jbc.M807530200","article-title":"MicroRNA-298 and microRNA-328 regulate expression of mouse \u03b2-amyloid precursor protein-converting enzyme 1","volume":"284","author":"Boissonneault","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2009.05.005_bib90","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1750-1326-3-10","article-title":"MicroRNAs can regulate human APP levels","volume":"3","author":"Patel","year":"2008","journal-title":"Mol. Neurodegener."},{"key":"10.1016\/j.tins.2009.05.005_bib91","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1001\/archneur.59.9.1381","article-title":"\u03b2-Secretase protein and activity are increased in the neocortex in Alzheimer disease","volume":"59","author":"Fukumoto","year":"2002","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib92","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1038\/nm1784","article-title":"Expression of a noncoding RNA is elevated in Alzheimer's disease and drives rapid feed-forward regulation of \u03b2-secretase","volume":"14","author":"Faghihi","year":"2008","journal-title":"Nat. Med."},{"key":"10.1016\/j.tins.2009.05.005_bib93","doi-asserted-by":"crossref","first-page":"31315","DOI":"10.1074\/jbc.M805371200","article-title":"An NF-\u03baB-sensitive micro RNA-146a-mediated inflammatory circuit in Alzheimer disease and in stressed human brain cells","volume":"283","author":"Lukiw","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2009.05.005_bib94","doi-asserted-by":"crossref","first-page":"3631","DOI":"10.1093\/hmg\/ddn257","article-title":"Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia","volume":"17","author":"Rademakers","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib95","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.molmed.2006.01.004","article-title":"MicroRNA therapeutics: a new niche for antisense nucleic acids","volume":"12","author":"Hammond","year":"2006","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.tins.2009.05.005_bib96","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3233\/JAD-2008-14103","article-title":"Identification of miRNA changes in Alzheimer's disease brain and CSF yields putative biomarkers and insights into disease pathways","volume":"14","author":"Cogswell","year":"2008","journal-title":"J. Alzheimers Dis."},{"key":"10.1016\/j.tins.2009.05.005_bib97","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1093\/hmg\/ddi241","article-title":"The H1c haplotype at the MAPT locus is associated with Alzheimer's disease","volume":"14","author":"Myers","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib98","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.nbd.2006.10.018","article-title":"The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts","volume":"25","author":"Myers","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.tins.2009.05.005_bib99","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng1943","article-title":"The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease","volume":"39","author":"Rogaeva","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib100","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/j.cell.2008.05.048","article-title":"A polymorphism in CALHM1 influences Ca2+ homeostasis, A\u03b2 levels, and Alzheimer's disease risk","volume":"133","author":"Dreses-Werringloer","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.tins.2009.05.005_bib101","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/j.cell.2008.11.030","article-title":"No association between CALHM1 and Alzheimer's disease risk","volume":"135","author":"Bertram","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.tins.2009.05.005_bib102","doi-asserted-by":"crossref","first-page":"E566","DOI":"10.1002\/humu.20989","article-title":"No association between CALHM1 variation and risk of Alzheimer disease","volume":"30","author":"Minster","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2009.05.005_bib103","doi-asserted-by":"crossref","first-page":"E570","DOI":"10.1002\/humu.20990","article-title":"No association between CALHM1 and risk for Alzheimer dementia in a Belgian population","volume":"30","author":"Sleegers","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2009.05.005_bib104","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/ng1934","article-title":"Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database","volume":"39","author":"Bertram","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib105","unstructured":"Feulner, T.M. et al. (2009) Examination of the current top candidate genes for AD in a genome-wide association study. Mol. Psychiatry 10.1038\/mp.2008.141"},{"key":"10.1016\/j.tins.2009.05.005_bib106","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.neuron.2007.05.022","article-title":"GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers","volume":"54","author":"Reiman","year":"2007","journal-title":"Neuron"},{"key":"10.1016\/j.tins.2009.05.005_bib107","doi-asserted-by":"crossref","first-page":"E338","DOI":"10.1002\/humu.20909","article-title":"Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia","volume":"30","author":"Sleegers","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2009.05.005_bib108","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1002\/ana.20873","article-title":"Frontotemporal dementia: clinicopathological correlations","volume":"59","author":"Forman","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib109","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ana.20700","article-title":"Clinical and pathological characterization of progressive aphasia","volume":"59","author":"Knibb","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib110","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1002\/ana.20425","article-title":"Antemortem diagnosis of frontotemporal lobar degeneration","volume":"57","author":"Knopman","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib111","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1097\/WCO.0b013e328318444d","article-title":"New approaches to the treatment of frontotemporal lobar degeneration","volume":"21","author":"Vossel","year":"2008","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib112","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/ng.305","article-title":"Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease","volume":"41","author":"Carrasquillo","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib113","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ajhg.2008.12.008","article-title":"Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease","volume":"84","author":"Beecham","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib114","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/1755-8794-1-44","article-title":"A genome-wide association study for late-onset Alzheimer's disease using DNA pooling","volume":"1","author":"Abraham","year":"2008","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.tins.2009.05.005_bib115","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ajhg.2008.10.008","article-title":"Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE","volume":"83","author":"Bertram","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib116","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1001\/archneurol.2007.3","article-title":"Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease","volume":"65","author":"Li","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.tins.2009.05.005_bib117","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1093\/hmg\/ddm031","article-title":"Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants","volume":"16","author":"Grupe","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2009.05.005_bib118","doi-asserted-by":"crossref","first-page":"613","DOI":"10.4088\/JCP.v68n0419","article-title":"A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease","volume":"68","author":"Coon","year":"2007","journal-title":"J. Clin. Psychiatry"}],"container-title":["Trends in Neurosciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166223609001052?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166223609001052?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T04:38:29Z","timestamp":1633754309000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0166223609001052"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":118,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["S0166223609001052"],"URL":"https:\/\/doi.org\/10.1016\/j.tins.2009.05.005","relation":{},"ISSN":["0166-2236"],"issn-type":[{"value":"0166-2236","type":"print"}],"subject":[],"published":{"date-parts":[[2009,8]]}}}