{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T14:18:21Z","timestamp":1791555501077,"version":"4.3.4"},"reference-count":81,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T00:00:00Z","timestamp":1677024000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013409","name":"Sistema General de Regal\u00edas de Colombia","doi-asserted-by":"publisher","award":["(BPIN2018000100059)"],"award-info":[{"award-number":["(BPIN2018000100059)"]}],"id":[{"id":"10.13039\/501100013409","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000957","name":"Alzheimer\u2019s Association","doi-asserted-by":"crossref","award":["SG-20-725707"],"award-info":[{"award-number":["SG-20-725707"]}],"id":[{"id":"10.13039\/100000957","id-type":"DOI","asserted-by":"crossref"}]},{"name":"PICT","award":["(2017-1818 and 2017-1820)"],"award-info":[{"award-number":["(2017-1818 and 2017-1820)"]}]},{"name":"ANID\/PIA\/ANILLOS","award":["ACT210096"],"award-info":[{"award-number":["ACT210096"]}]},{"name":"CONICET, ANID\/FONDAP","award":["(15150012)"],"award-info":[{"award-number":["(15150012)"]}]},{"name":"National Institutes of Aging","award":["R01 AG057234"],"award-info":[{"award-number":["R01 AG057234"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,2,6]]},"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of <jats:italic>TREM2<\/jats:italic> has been reported only in patients with Alzheimer\u2019s disease. Here, we report three patients with frontotemporal dementia (FTD) from three unrelated families with heterozygous p.H157Y variant of <jats:italic>TREM2<\/jats:italic>: two patients from Colombian families (study 1) and a third Mexican origin case from the USA (study 2).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups\u2014a healthy control group (HC) and a group with FTD with neither <jats:italic>TREM2<\/jats:italic> mutations nor family antecedents (Ng-FTD and Ng-FTD-MND).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The two Colombian cases presented with early behavioural changes, greater impairments in general cognition and executive function compared with both HC and Ng-FTD groups. These patients also exhibited brain atrophy in areas characteristic of FTD. Furthermore, TREM2 cases showed increased atrophy compared with Ng-FTD in frontal, temporal, parietal, precuneus, basal ganglia, parahippocampal\/hippocampal and cerebellar regions. The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of <jats:italic>TREM2<\/jats:italic> gene expression in crucial brain regions including frontal, temporal, thalamic and basal ganglia areas. These results provide the first report of an FTD presentation potentially associated with the p.H157Y variant with exacerbated neurocognitive impairments.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108627","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T13:21:19Z","timestamp":1677072079000},"page":"894-904","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of <i>TREM2<\/i>"],"prefix":"10.1136","volume":"60","author":[{"given":"Natalia","family":"Ogonowski","sequence":"first","affiliation":[{"name":"Latin American Institute for Brain Health (BrainLat), Universidad Adolfo Ibanez, Adolfo Ibanez University, Santiago, Chile, Santiago de Chile, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hernando","family":"Santamaria-Garcia","sequence":"additional","affiliation":[{"name":"Global Brain Health Institute (GBHI), University California San Francisco (UCSF), San Francisco, California, USA"},{"name":"Pontificia Universidad Javeriana. Ph.D Program of Neuroscience, Bogot\u00e1, Colombia"},{"name":"Hospital Universitario San Ignacio. Centro de Memoria y Cognici\u00f3n Intellectus, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Baez","sequence":"additional","affiliation":[{"name":"Universidad de los Andes, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Lopez","sequence":"additional","affiliation":[{"name":"Hospital Universitario de la Fundaci\u00f3n Santa Fe de Bogot\u00e1, Bogota, Colombia"},{"name":"Pontificia Universidad Javeriana, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Laserna","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana, Bogota, Colombia"},{"name":"University of Rochester Medical Center. Department of Anesthesiology and Perioperative Medicine. of Anesthesiology and Perioperative Medicine, Rochester, NY, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elkin","family":"Garcia-Cifuentes","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana, Bogota, Colombia"},{"name":"Hospital Universitario San Ignacio, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Ayala-Ramirez","sequence":"additional","affiliation":[{"name":"Human Genomics Institute, Pontificia Universidad Javeriana, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Zarante","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6336-5347","authenticated-orcid":false,"given":"Fernando","family":"Suarez-Obando","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Reyes","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo","family":"Kauffman","sequence":"additional","affiliation":[{"name":"Hospital General de Agudos Jose Maria Ramos Mejia Consultorio y Laboratorio de Neurogenetica, Buenos Aires, Argentina"},{"name":"Universidad Austral. IIMT-FCB. Conicet, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Cochran","sequence":"additional","affiliation":[{"name":"HudsonAlpha, Huntsville, Alabama, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4956-5454","authenticated-orcid":false,"given":"Michael","family":"Schulte","sequence":"additional","affiliation":[{"name":"BrainLat, Santiago de Chile, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel W","family":"Sirkis","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California, San Francisco, San Francisco, California, USA"},{"name":"Weil Institute of Neuroscience, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Spina","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer S","family":"Yokoyama","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California, San Francisco, San Francisco, California, USA"},{"name":"Weil Institute of Neuroscience, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce L","family":"Miller","sequence":"additional","affiliation":[{"name":"UCSF, San Francisco, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth S","family":"Kosik","sequence":"additional","affiliation":[{"name":"University of California Santa Barbara, Santa Barbara, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Matallana","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana, Bogota, Colombia"},{"name":"Hospital Universitario Fundaci\u00f3n Santa Fe, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6758-5101","authenticated-orcid":false,"given":"Agust\u00edn","family":"Ib\u00e1\u00f1ez","sequence":"additional","affiliation":[{"name":"Latin American Institute for Brain Health (BrainLat), Universidad Adolfo Ibanez, Adolfo Ibanez University, Santiago, Chile, Santiago de Chile, Chile"},{"name":"Global Brain Health Institute (GBHI), Trinity College Dublin, Dublin, Ireland"},{"name":"Cognitive Neuroscience Center (CNC), Universidad de San Andres & CONICET, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,2,22]]},"reference":[{"key":"2025101721520984000_60.9.894.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-018-1925-9"},{"key":"2025101721520984000_60.9.894.2","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0242-x"},{"key":"2025101721520984000_60.9.894.3","doi-asserted-by":"crossref","DOI":"10.1186\/s13024-017-0197-5","article-title":"Trem2 in neurodegenerative diseases","volume":"12","author":"Jay","year":"2017","journal-title":"Mol Neurodegener"},{"key":"2025101721520984000_60.9.894.4","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30232-1"},{"key":"2025101721520984000_60.9.894.5","doi-asserted-by":"crossref","first-page":"318","DOI":"10.2174\/1567202613666160808095530","article-title":"Trem2 p.H157Y variant and the risk of Alzheimer\u2019s disease: a meta-analysis involving 14,510 subjects","volume":"13","author":"Jiang","year":"2016","journal-title":"Curr Neurovasc Res"},{"key":"2025101721520984000_60.9.894.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2017.02.042"},{"key":"2025101721520984000_60.9.894.7","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.3233\/JAD-181038","article-title":"Trem2 variants and neurodegenerative diseases: a systematic review and meta-analysis","volume":"68","author":"Zhou","year":"2019","journal-title":"J Alzheimers Dis"},{"key":"2025101721520984000_60.9.894.8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1211851"},{"key":"2025101721520984000_60.9.894.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1211103"},{"key":"2025101721520984000_60.9.894.10","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1016\/j.neurobiolaging.2014.06.018","article-title":"Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes","volume":"35","author":"Thelen","year":"2014","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2017.03.008"},{"key":"2025101721520984000_60.9.894.12","doi-asserted-by":"publisher","DOI":"10.1096\/FJ.201900527R"},{"key":"2025101721520984000_60.9.894.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2016.07.004"},{"key":"2025101721520984000_60.9.894.14","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201707672"},{"key":"2025101721520984000_60.9.894.15","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1212\/01.wnl.0000216105.11788.0f","article-title":"The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2","volume":"66","author":"Bianchin","year":"2006","journal-title":"Neurology"},{"key":"2025101721520984000_60.9.894.16","doi-asserted-by":"crossref","first-page":"2890","DOI":"10.1016\/j.neurobiolaging.2013.06.005","article-title":"Novel compound heterozygous mutation in TREM2 found in a turkish frontotemporal dementia-like family","volume":"34","author":"Guerreiro","year":"2013","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.17","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20030027"},{"key":"2025101721520984000_60.9.894.18","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.1016\/j.neurobiolaging.2013.02.016","article-title":"Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and alzheimer\u2019s disease","volume":"34","author":"Giraldo","year":"2013","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2016.06.015"},{"key":"2025101721520984000_60.9.894.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2017.09.034"},{"key":"2025101721520984000_60.9.894.21","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201707673"},{"key":"2025101721520984000_60.9.894.22","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr179"},{"key":"2025101721520984000_60.9.894.23","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821103e6"},{"key":"2025101721520984000_60.9.894.24","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2016.1267768"},{"key":"2025101721520984000_60.9.894.25","doi-asserted-by":"publisher","DOI":"10.1111\/j.1532-5415.2005.53221.x"},{"key":"2025101721520984000_60.9.894.26","doi-asserted-by":"publisher","DOI":"10.1076\/jcen.25.6.751.16478"},{"key":"2025101721520984000_60.9.894.27","doi-asserted-by":"publisher","DOI":"10.1017\/S1355617709990415"},{"key":"2025101721520984000_60.9.894.28","doi-asserted-by":"publisher","DOI":"10.1177\/1073191113492845"},{"key":"2025101721520984000_60.9.894.29","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1997.tb01599.x"},{"key":"2025101721520984000_60.9.894.30","doi-asserted-by":"publisher","DOI":"10.1093\/scan\/nst108"},{"key":"2025101721520984000_60.9.894.31","article-title":"A lesion-proof brain? multidimensional sensorimotor, cognitive, and socio-affective preservation despite extensive damage in a stroke patient","volume":"8","author":"Garc\u00eda","year":"2016","journal-title":"Front Aging Neurosci"},{"key":"2025101721520984000_60.9.894.32","doi-asserted-by":"publisher","DOI":"10.1016\/j.cortex.2011.02.017"},{"key":"2025101721520984000_60.9.894.33","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104148"},{"key":"2025101721520984000_60.9.894.34","doi-asserted-by":"crossref","DOI":"10.1186\/s12883-022-02954-1","article-title":"Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study","volume":"22","author":"Santamar\u00eda-Garc\u00eda","year":"2022","journal-title":"BMC Neurol"},{"key":"2025101721520984000_60.9.894.35","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"2025101721520984000_60.9.894.36","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-0983-7"},{"key":"2025101721520984000_60.9.894.37","first-page":"2950","article-title":"VAPB and c9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient","volume":"33","author":"van Blitterswijk","year":"2012","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.38","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2722"},{"key":"2025101721520984000_60.9.894.39","doi-asserted-by":"publisher","DOI":"10.1086\/342259"},{"key":"2025101721520984000_60.9.894.40","doi-asserted-by":"publisher","DOI":"10.1023\/B:CEMN.0000012721.08168.ee"},{"key":"2025101721520984000_60.9.894.41","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03311.x"},{"key":"2025101721520984000_60.9.894.42","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3233\/JAD-122311","article-title":"Trem2 R47H variant as a risk factor for early-onset Alzheimer\u2019s disease","volume":"35","author":"Pottier","year":"2013","journal-title":"J Alzheimers Dis"},{"key":"2025101721520984000_60.9.894.43","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1306509"},{"key":"2025101721520984000_60.9.894.44","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20836"},{"key":"2025101721520984000_60.9.894.45","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1001\/jamaneurol.2013.579","article-title":"Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement","volume":"70","author":"Guerreiro","year":"2013","journal-title":"JAMA Neurol"},{"key":"2025101721520984000_60.9.894.46","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.1016\/j.neurobiolaging.2014.04.010","article-title":"Homozygous TREM2 mutation in a family with atypical frontotemporal dementia","volume":"35","author":"Le Ber","year":"2014","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.47","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.neurobiolaging.2013.09.009","article-title":"Investigating the role of rare heterozygous TREM2 variants in alzheimer\u2019s disease and frontotemporal dementia","volume":"35","author":"Cuyvers","year":"2014","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.48","doi-asserted-by":"crossref","first-page":"2681","DOI":"10.1016\/j.neurobiolaging.2014.06.007","article-title":"Frontobasal gray matter loss is associated with the TREM2 p.r47h variant","volume":"35","author":"Luis","year":"2014","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.49","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)70016-5"},{"key":"2025101721520984000_60.9.894.50","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1080\/21678421.2018.1451894","article-title":"Trem2 variants in neurodegenerative disorders in the Polish population. homozygosity and compound heterozygosity in FTD patients","volume":"19","author":"Peplonska","year":"2018","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"2025101721520984000_60.9.894.51","doi-asserted-by":"crossref","DOI":"10.1186\/s13073-022-01035-9","article-title":"A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects","volume":"14","author":"Acosta-Uribe","year":"2022","journal-title":"Genome Med"},{"key":"2025101721520984000_60.9.894.52","first-page":"224","article-title":"Identificaci\u00f3n de variantes de alto impacto en TREM2 y ABCA7 en individuos mexicanos diagnosticados con enfermedad de alzheimer","volume":"1","author":"Genis-Mendoza","year":"2020","journal-title":"Rev Mex Psiq"},{"key":"2025101721520984000_60.9.894.53","doi-asserted-by":"publisher","DOI":"10.1038\/nri1106"},{"key":"2025101721520984000_60.9.894.54","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-05118-w"},{"key":"2025101721520984000_60.9.894.55","first-page":"710332","article-title":"Frontotemporal dementias in latin america: history","volume":"12","author":"Llibre-Guerra","year":"2021","journal-title":"Epidemiology, Genetics, and Clinical Research Frontiers in Neurology"},{"key":"2025101721520984000_60.9.894.56","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-021-00975-6"},{"key":"2025101721520984000_60.9.894.57","doi-asserted-by":"crossref","unstructured":"Migeot JA , Duran-Aniotz CA , Signorelli CM . A predictive coding framework of allostatic\u2013interoceptive overload in frontotemporal dementia. Trends in Neurosciences 2022. doi:10.1016\/j.tins.2022.08.005","DOI":"10.1002\/alz.063127"},{"key":"2025101721520984000_60.9.894.58","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.20391","article-title":"Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms","volume":"5","author":"Kober","year":"2016","journal-title":"Elife"},{"key":"2025101721520984000_60.9.894.59","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1111\/ene.14908","article-title":"Trem2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features","volume":"28","author":"Samanci","year":"2021","journal-title":"Eur J Neurol"},{"key":"2025101721520984000_60.9.894.60","doi-asserted-by":"publisher","DOI":"10.1016\/j.tics.2022.07.008"},{"key":"2025101721520984000_60.9.894.61","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00461-4"},{"key":"2025101721520984000_60.9.894.62","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.01059"},{"key":"2025101721520984000_60.9.894.63","doi-asserted-by":"publisher","DOI":"10.1159\/000338176"},{"key":"2025101721520984000_60.9.894.64","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2007.03.024"},{"key":"2025101721520984000_60.9.894.65","doi-asserted-by":"publisher","DOI":"10.1212\/01.CON.0000466658.05156.54"},{"key":"2025101721520984000_60.9.894.66","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.neurobiolaging.2016.02.023","article-title":"A rare coding variant in TREM2 increases risk for alzheimer\u2019s disease in han chinese","volume":"42","author":"Jiang","year":"2016","journal-title":"Neurobiol Aging"},{"key":"2025101721520984000_60.9.894.67","doi-asserted-by":"publisher","DOI":"10.1016\/j.dadm.2019.06.002"},{"key":"2025101721520984000_60.9.894.68","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2009.0160"},{"key":"2025101721520984000_60.9.894.69","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182518375"},{"key":"2025101721520984000_60.9.894.70","article-title":"Classification of alzheimer\u2019s disease and frontotemporal dementia using routine clinical and cognitive measures across multicentric underrepresented samples: A cross sectional observational study","volume":"17","author":"Maito","year":"2023","journal-title":"Lancet Reg Health Am"},{"key":"2025101721520984000_60.9.894.71","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2022.02.955"},{"key":"2025101721520984000_60.9.894.72","doi-asserted-by":"crossref","unstructured":"Moguilner S , Birba A , Fittipaldi S , et al . Multi-feature computational framework for combined signatures of dementia in underrepresented settings. J Neural Eng 2022;19. doi:10.1088\/1741-2552\/ac87d0","DOI":"10.1088\/1741-2552\/ac87d0"},{"key":"2025101721520984000_60.9.894.73","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2578-20.2021"},{"key":"2025101721520984000_60.9.894.74","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1093\/brain\/awab345","article-title":"Multimodal mechanisms of human socially reinforced learning across neurodegenerative diseases","volume":"145","author":"Legaz","year":"2022","journal-title":"Brain"},{"key":"2025101721520984000_60.9.894.75","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1155\/2012\/286427","article-title":"Apathy in frontotemporal dementia: behavioral and neuroimaging correlates","volume":"25","author":"Eslinger","year":"2012","journal-title":"Behav Neurol"},{"key":"2025101721520984000_60.9.894.76","doi-asserted-by":"publisher","DOI":"10.1097\/WAD.0b013e31815d19fe"},{"key":"2025101721520984000_60.9.894.77","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1001\/jamaneurol.2013.6237","article-title":"Trem2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis","volume":"71","author":"Cady","year":"2014","journal-title":"JAMA Neurol"},{"key":"2025101721520984000_60.9.894.78","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530110068019"},{"key":"2025101721520984000_60.9.894.79","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-02077-x"},{"key":"2025101721520984000_60.9.894.80","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm024"},{"key":"2025101721520984000_60.9.894.81","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1016\/j.ajhg.2020.03.010","article-title":"Non-coding and loss-of-function coding variants in TET2 are associated with multiple neurodegenerative diseases","volume":"106","author":"Cochran","year":"2020","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg-2022-108627","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:52:24Z","timestamp":1760763144000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg-2022-108627"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,22]]},"references-count":81,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,8,21]]},"published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1136\/jmg-2022-108627"],"URL":"https:\/\/doi.org\/10.1136\/jmg-2022-108627","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,22]]}}}