% alzhub.org library filter
% Source: https://alzhub.org/research?category=lewy_body&about=genetics
% 120 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{rutherford2008-18802454,
  author  = {Rutherford, N. J. and Zhang, Y. J. and Baker, M. and Gass, J. M. and Finch, N. A. and Xu, Y. F. and Stewart, H. and Kelley, B. J. and others},
  title   = {{Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis}},
  journal = {PLoS genetics},
  year    = {2008},
  doi     = {10.1371/journal.pgen.1000193},
  pmid    = {18802454},
  url     = {https://doi.org/10.1371/journal.pgen.1000193}
}

@article{hutton1998-9641683,
  author  = {Hutton, M. and Lendon, C. L. and Rizzu, P. and Baker, M. and Froelich, S. and Houlden, H. and Pickering-Brown, S. and Chakraverty, S. and others},
  title   = {{Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17}},
  journal = {Nature},
  year    = {1998},
  doi     = {10.1038/31508},
  pmid    = {9641683},
  url     = {https://doi.org/10.1038/31508}
}

@article{cruts2006-16862115,
  author  = {Cruts, M. and Gijselinck, I. and van der Zee, J. and Engelborghs, S. and Wils, H. and Pirici, D. and Rademakers, R. and others},
  title   = {{Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21}},
  journal = {Nature},
  year    = {2006},
  doi     = {10.1038/nature05017},
  pmid    = {16862115},
  url     = {https://doi.org/10.1038/nature05017}
}

@article{ma2022-35197626,
  author  = {Ma, X. R. and Prudencio, M. and Koike, Y. and Vatsavayai, S. C. and Kim, G. and Harbinski, F. and Briner, A. and Rodriguez, C. M. and others},
  title   = {{TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A}},
  journal = {Nature},
  year    = {2022},
  doi     = {10.1038/s41586-022-04424-7},
  pmid    = {35197626},
  url     = {https://doi.org/10.1038/s41586-022-04424-7}
}

@article{chia2021-33589841,
  author  = {Chia, R. and Sabir, M. S. and Bandres-Ciga, S. and Saez-Atienzar, S. and Reynolds, R. H. and Gustavsson, E. and Walton, R. L. and Ahmed, S. and others},
  title   = {{Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture}},
  journal = {Nature genetics},
  year    = {2021},
  doi     = {10.1038/s41588-021-00785-3},
  pmid    = {33589841},
  url     = {https://doi.org/10.1038/s41588-021-00785-3}
}

@article{beecham2014-25188341,
  author  = {Beecham, G. W. and Hamilton, K. and Naj, A. C. and Martin, E. R. and Huentelman, M. and Myers, A. J. and Corneveaux, J. J. and Hardy, J. and others},
  title   = {{Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias}},
  journal = {PLoS genetics},
  year    = {2014},
  doi     = {10.1371/journal.pgen.1004606},
  pmid    = {25188341},
  url     = {https://doi.org/10.1371/journal.pgen.1004606}
}

@article{renton2011-21944779,
  author  = {Renton, A. E. and Majounie, E. and Waite, A. and Simón-Sánchez, J. and Rollinson, S. and Gibbs, JR. and Schymick, J. C. and Laaksovirta, H. and others},
  title   = {{A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD}},
  journal = {Neuron},
  year    = {2011},
  doi     = {10.1016/j.neuron.2011.09.010},
  pmid    = {21944779},
  url     = {https://doi.org/10.1016/j.neuron.2011.09.010}
}

@article{memel2025-40277077,
  author  = {Memel, Molly and Staffaroni, Adam M. and Illán‐Gala, Ignacio and Castro, Jesús García and Kornak, John and Tartaglia, Carmela M. and Saloner, Rowan and VandeBunte, Anna M. and others},
  title   = {{Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia}},
  journal = {Alzheimer s \& Dementia},
  year    = {2025},
  doi     = {10.1002/alz.14630},
  pmid    = {40277077},
  url     = {https://doi.org/10.1002/alz.14630}
}

@article{mirza2025-40260680,
  author  = {Mirza, Saira Saeed and Pasternak, Maurice M. and Paterson, Andrew D. and Rogaeva, Ekaterina A. and Tartaglia, Maria Carmela and Mitchell, Sara Berman and Black, Sandra E. and Freedman, Morris and others},
  title   = {{Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study}},
  journal = {Brain},
  year    = {2025},
  doi     = {10.1093/brain/awaf019},
  pmid    = {40260680},
  url     = {https://doi.org/10.1093/brain/awaf019}
}

@article{dejesushernandez2011-21944778,
  author  = {DeJesus-Hernandez, M. and Mackenzie, I. R. and Boeve, B. F. and Boxer, A. L. and Baker, M. and Rutherford, N. J. and Nicholson, A. M. and Finch, N. A. and others},
  title   = {{Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS}},
  journal = {Neuron},
  year    = {2011},
  doi     = {10.1016/j.neuron.2011.09.011},
  pmid    = {21944778},
  url     = {https://doi.org/10.1016/j.neuron.2011.09.011}
}

@article{deng2011-21857683,
  author  = {Deng, H. X. and Chen, W. and Hong, S. T. and Boycott, K. M. and Gorrie, G. H. and Siddique, N. and Yang, Y. and Fecto, F. and others},
  title   = {{Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia}},
  journal = {Nature},
  year    = {2011},
  doi     = {10.1038/nature10353},
  pmid    = {21857683},
  url     = {https://doi.org/10.1038/nature10353}
}

@article{melamed2019-30643298,
  author  = {Melamed, Z. and López-Erauskin, J. and Baughn, M. W. and Zhang, O. and Drenner, K. and Sun, Y. and Freyermuth, F. and McMahon, M. A. and others},
  title   = {{Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration}},
  journal = {Nature neuroscience},
  year    = {2019},
  doi     = {10.1038/s41593-018-0293-z},
  pmid    = {30643298},
  url     = {https://doi.org/10.1038/s41593-018-0293-z}
}

@article{rohrer2015-25662776,
  author  = {Rohrer, J. D. and Nicholas, J. M. and Cash, D. M. and van Swieten, J. and Dopper, E. and Jiskoot, L. and van Minkelen, R. and Rombouts, S. A. and others},
  title   = {{Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis}},
  journal = {The Lancet. Neurology},
  year    = {2015},
  doi     = {10.1016/s1474-4422(14)70324-2},
  pmid    = {25662776},
  url     = {https://doi.org/10.1016/s1474-4422(14)70324-2}
}

@article{ghetti2015-25556536,
  author  = {Ghetti, B. and Oblak, A. L. and Boeve, B. F. and Johnson, K. A. and Dickerson, B. C. and Goedert, M.},
  title   = {{Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging}},
  journal = {Neuropathology and applied neurobiology},
  year    = {2015},
  doi     = {10.1111/nan.12213},
  pmid    = {25556536},
  url     = {https://doi.org/10.1111/nan.12213}
}

@article{baker2006-16862116,
  author  = {Baker, M. and Mackenzie, I. R. and Pickering-Brown, S. M. and Gass, J. and Rademakers, R. and Lindholm, C. and Snowden, J. and Adamson, J. and others},
  title   = {{Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17}},
  journal = {Nature},
  year    = {2006},
  doi     = {10.1038/nature05016},
  pmid    = {16862116},
  url     = {https://doi.org/10.1038/nature05016}
}

@article{vandeerlin2008-18396105,
  author  = {Van Deerlin, V. M. and Leverenz, J. B. and Bekris, L. M. and Bird, T. D. and Yuan, W. and Elman, L. B. and Clay, D. and Wood, E. M. and others},
  title   = {{TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis}},
  journal = {The Lancet. Neurology},
  year    = {2008},
  doi     = {10.1016/s1474-4422(08)70071-1},
  pmid    = {18396105},
  url     = {https://doi.org/10.1016/s1474-4422(08)70071-1}
}

@article{gijselinck2012-22154785,
  author  = {Gijselinck, I. and Van Langenhove, T. and van der Zee, J. and Sleegers, K. and Philtjens, S. and Kleinberger, G. and Janssens, J. and Bettens, K. and others},
  title   = {{A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study}},
  journal = {The Lancet. Neurology},
  year    = {2012},
  doi     = {10.1016/s1474-4422(11)70261-7},
  pmid    = {22154785},
  url     = {https://doi.org/10.1016/s1474-4422(11)70261-7}
}

@article{finch2009-19158106,
  author  = {Finch, N. and Baker, M. and Crook, R. and Swanson, K. and Kuntz, K. and Surtees, R. and Bisceglio, G. and Rovelet-Lecrux, A. and others},
  title   = {{Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members}},
  journal = {Brain : a journal of neurology},
  year    = {2009},
  doi     = {10.1093/brain/awn352},
  pmid    = {19158106},
  url     = {https://doi.org/10.1093/brain/awn352}
}

@article{zarranz2004-14755719,
  author  = {Zarranz, J. J. and Alegre, J. and Gómez-Esteban, J. C. and Lezcano, E. and Ros, R. and Ampuero, I. and Vidal, L. and Hoenicka, J. and others},
  title   = {{The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia}},
  journal = {Annals of neurology},
  year    = {2004},
  doi     = {10.1002/ana.10795},
  pmid    = {14755719},
  url     = {https://doi.org/10.1002/ana.10795}
}

@article{mori2013-23393093,
  author  = {Mori, K. and Weng, S. M. and Arzberger, T. and May, S. and Rentzsch, K. and Kremmer, E. and Schmid, B. and Kretzschmar, H. A. and others},
  title   = {{The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS}},
  journal = {Science (New York, N.Y.)},
  year    = {2013},
  doi     = {10.1126/science.1232927},
  pmid    = {23393093},
  url     = {https://doi.org/10.1126/science.1232927}
}

@article{hong1998-9836646,
  author  = {Hong, M. and Zhukareva, V. and Vogelsberg-Ragaglia, V. and Wszolek, Z. and Reed, L. and Miller, B. I. and Geschwind, D. H. and Bird, T. D. and others},
  title   = {{Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17}},
  journal = {Science (New York, N.Y.)},
  year    = {1998},
  doi     = {10.1126/science.282.5395.1914},
  pmid    = {9836646},
  url     = {https://doi.org/10.1126/science.282.5395.1914}
}

@article{gass2006-16950801,
  author  = {Gass, J. and Cannon, A. and Mackenzie, I. R. and Boeve, B. and Baker, M. and Adamson, J. and Crook, R. and Melquist, S. and others},
  title   = {{Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration}},
  journal = {Human molecular genetics},
  year    = {2006},
  doi     = {10.1093/hmg/ddl241},
  pmid    = {16950801},
  url     = {https://doi.org/10.1093/hmg/ddl241}
}

@article{cairns2007-17591968,
  author  = {Cairns, N. J. and Neumann, M. and Bigio, E. H. and Holm, I. E. and Troost, D. and Hatanpaa, K. J. and Foong, C. and White, C. L. and others},
  title   = {{TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions}},
  journal = {The American journal of pathology},
  year    = {2007},
  doi     = {10.2353/ajpath.2007.070182},
  pmid    = {17591968},
  url     = {https://doi.org/10.2353/ajpath.2007.070182}
}

@article{paisanruiz2004-15541308,
  author  = {Paisán-Ruíz, C. and Jain, S. and Evans, E. W. and Gilks, W. P. and Simón, J. and van der Brug, M. and López de Munain, A. and Aparicio, S. and others},
  title   = {{Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease}},
  journal = {Neuron},
  year    = {2004},
  doi     = {10.1016/j.neuron.2004.10.023},
  pmid    = {15541308},
  url     = {https://doi.org/10.1016/j.neuron.2004.10.023}
}

@article{joutel1996-8878478,
  author  = {Joutel, A. and Corpechot, C. and Ducros, A. and Vahedi, K. and Chabriat, H. and Mouton, P. and Alamowitch, S. and Domenga, V. and others},
  title   = {{Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia}},
  journal = {Nature},
  year    = {1996},
  doi     = {10.1038/383707a0},
  pmid    = {8878478},
  url     = {https://doi.org/10.1038/383707a0}
}

@article{conway1998-9809558,
  author  = {Conway, K. A. and Harper, J. D. and Lansbury, P. T.},
  title   = {{Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease}},
  journal = {Nature medicine},
  year    = {1998},
  doi     = {10.1038/3311},
  pmid    = {9809558},
  url     = {https://doi.org/10.1038/3311}
}

@article{kleinberger2014-24990881,
  author  = {Kleinberger, G. and Yamanishi, Y. and Suárez-Calvet, M. and Czirr, E. and Lohmann, E. and Cuyvers, E. and Struyfs, H. and Pettkus, N. and others},
  title   = {{TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis}},
  journal = {Science translational medicine},
  year    = {2014},
  doi     = {10.1126/scitranslmed.3009093},
  pmid    = {24990881},
  url     = {https://doi.org/10.1126/scitranslmed.3009093}
}

@article{neumann2009-19674978,
  author  = {Neumann, M. and Rademakers, R. and Roeber, S. and Baker, M. and Kretzschmar, H. A. and Mackenzie, I. R.},
  title   = {{A new subtype of frontotemporal lobar degeneration with FUS pathology}},
  journal = {Brain : a journal of neurology},
  year    = {2009},
  doi     = {10.1093/brain/awp214},
  pmid    = {19674978},
  url     = {https://doi.org/10.1093/brain/awp214}
}

@article{johnson2014-24686783,
  author  = {Johnson, J. O. and Pioro, E. P. and Boehringer, A. and Chia, R. and Feit, H. and Renton, A. E. and Pliner, H. A. and Abramzon, Y. and others},
  title   = {{Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis}},
  journal = {Nature neuroscience},
  year    = {2014},
  doi     = {10.1038/nn.3688},
  pmid    = {24686783},
  url     = {https://doi.org/10.1038/nn.3688}
}

@article{zimprich2004-15541309,
  author  = {Zimprich, A. and Biskup, S. and Leitner, P. and Lichtner, P. and Farrer, M. and Lincoln, S. and Kachergus, J. and Hulihan, M. and others},
  title   = {{Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology}},
  journal = {Neuron},
  year    = {2004},
  doi     = {10.1016/j.neuron.2004.11.005},
  pmid    = {15541309},
  url     = {https://doi.org/10.1016/j.neuron.2004.11.005}
}

@article{spillantini1998-9636220,
  author  = {Spillantini, M. G. and Murrell, JR. and Goedert, M. and Farlow, M. R. and Klug, A. and Ghetti, B.},
  title   = {{Mutation in the tau gene in familial multiple system tauopathy with presenile dementia}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {1998},
  doi     = {10.1073/pnas.95.13.7737},
  pmid    = {9636220},
  url     = {https://doi.org/10.1073/pnas.95.13.7737}
}

@article{donnelly2013-24139042,
  author  = {Donnelly, C. J. and Zhang, P. W. and Pham, J. T. and Haeusler, A. R. and Mistry, N. A. and Vidensky, S. and Daley, E. L. and Poth, E. M. and others},
  title   = {{RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention}},
  journal = {Neuron},
  year    = {2013},
  doi     = {10.1016/j.neuron.2013.10.015},
  pmid    = {24139042},
  url     = {https://doi.org/10.1016/j.neuron.2013.10.015}
}

@article{zu2013-24248382,
  author  = {Zu, T. and Liu, Y. and Bañez-Coronel, M. and Reid, T. and Pletnikova, O. and Lewis, J. and Miller, T. M. and Harms, M. B. and others},
  title   = {{RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {2013},
  doi     = {10.1073/pnas.1315438110},
  pmid    = {24248382},
  url     = {https://doi.org/10.1073/pnas.1315438110}
}

@article{skibinski2005-16041373,
  author  = {Skibinski, G. and Parkinson, N. J. and Brown, J. M. and Chakrabarti, L. and Lloyd, S. L. and Hummerich, H. and Nielsen, J. E. and Hodges, JR. and others},
  title   = {{Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia}},
  journal = {Nature genetics},
  year    = {2005},
  doi     = {10.1038/ng1609},
  pmid    = {16041373},
  url     = {https://doi.org/10.1038/ng1609}
}

@article{shimura2000-10888878,
  author  = {Shimura, H. and Hattori, N. and Si, Kubo and Mizuno, Y. and Asakawa, S. and Minoshima, S. and Shimizu, N. and Iwai, K. and others},
  title   = {{Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase}},
  journal = {Nature genetics},
  year    = {2000},
  doi     = {10.1038/77060},
  pmid    = {10888878},
  url     = {https://doi.org/10.1038/77060}
}

@article{turner2013-23415570,
  author  = {Turner, M. R. and Hardiman, O. and Benatar, M. and Brooks, B. R. and Chio, A. and de Carvalho, M. and Ince, P. G. and Lin, C. and others},
  title   = {{Controversies and priorities in amyotrophic lateral sclerosis}},
  journal = {The Lancet. Neurology},
  year    = {2013},
  doi     = {10.1016/s1474-4422(13)70036-x},
  pmid    = {23415570},
  url     = {https://doi.org/10.1016/s1474-4422(13)70036-x}
}

@article{mazaheri2017-28483841,
  author  = {Mazaheri, F. and Snaidero, N. and Kleinberger, G. and Madore, C. and Daria, A. and Werner, G. and Krasemann, S. and Capell, A. and others},
  title   = {{TREM2 deficiency impairs chemotaxis and microglial responses to neuronal injury}},
  journal = {EMBO reports},
  year    = {2017},
  doi     = {10.15252/embr.201743922},
  pmid    = {28483841},
  url     = {https://doi.org/10.15252/embr.201743922}
}

@article{castro2025-40277045,
  author  = {Castro, Jesús García and Rubio‐Guerra, Sara and Casaletto, Kaitlin Blackstone and Selma‐González, Judit and Memel, Molly and Vaqué‐Alcázar, Lídia and Morcillo-Nieto, Alejandra Omaira and Arriola‐Infante, José Enrique and others},
  title   = {{Sex differences in the executive and behavioral reserve of autosomal dominant frontotemporal dementia}},
  journal = {Alzheimer s \& Dementia},
  year    = {2025},
  doi     = {10.1002/alz.70070},
  pmid    = {40277045},
  url     = {https://doi.org/10.1002/alz.70070}
}

@article{anderson2006-16847063,
  author  = {Anderson, J. P. and Walker, D. E. and Goldstein, J. M. and de Laat, R. and Banducci, K. and Caccavello, R. J. and Barbour, R. and Huang, J. and others},
  title   = {{Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease}},
  journal = {The Journal of biological chemistry},
  year    = {2006},
  doi     = {10.1074/jbc.m600933200},
  pmid    = {16847063},
  url     = {https://doi.org/10.1074/jbc.m600933200}
}

@article{alami2014-24507191,
  author  = {Alami, N. H. and Smith, R. B. and Carrasco, M. A. and Williams, L. A. and Winborn, C. S. and Han, S. S. W. and Kiskinis, E. and Winborn, B. and others},
  title   = {{Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations}},
  journal = {Neuron},
  year    = {2014},
  doi     = {10.1016/j.neuron.2013.12.018},
  pmid    = {24507191},
  url     = {https://doi.org/10.1016/j.neuron.2013.12.018}
}

@article{farrer2001-11558785,
  author  = {Farrer, M. and Chan, P. and Chen, R. and Tan, L. and Lincoln, S. and Hernandez, D. and Forno, L. and Gwinn-Hardy, K. and others},
  title   = {{Lewy bodies and parkinsonism in families with parkin mutations}},
  journal = {Annals of neurology},
  year    = {2001},
  doi     = {10.1002/ana.1132},
  pmid    = {11558785},
  url     = {https://doi.org/10.1002/ana.1132}
}

@article{sogorbesteve2025-39908349,
  author  = {Sogorb‐Esteve, Aitana and Weiner, Sophia and Simrén, Joel and Swift, Imogen J. and Bocchetta, Martina and Todd, Emily G. and Cash, David M. and Bouzigues, Arabella and others},
  title   = {{Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes}},
  journal = {Science Translational Medicine},
  year    = {2025},
  doi     = {10.1126/scitranslmed.adm9654},
  pmid    = {39908349},
  url     = {https://doi.org/10.1126/scitranslmed.adm9654}
}

@article{lee2001-11520930,
  author  = {Lee, V. M. and Goedert, M. and Trojanowski, J. Q.},
  title   = {{Neurodegenerative tauopathies}},
  journal = {Annual review of neuroscience},
  year    = {2001},
  doi     = {10.1146/annurev.neuro.24.1.1121},
  pmid    = {11520930},
  url     = {https://doi.org/10.1146/annurev.neuro.24.1.1121}
}

@article{barmada2010-20071528,
  author  = {Barmada, S. J. and Skibinski, G. and Korb, E. and Rao, E. J. and Wu, J. Y. and Finkbeiner, S.},
  title   = {{Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis}},
  journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year    = {2010},
  doi     = {10.1523/jneurosci.4988-09.2010},
  pmid    = {20071528},
  url     = {https://doi.org/10.1523/jneurosci.4988-09.2010}
}

@article{deboer2020-33177049,
  author  = {de Boer, E. M. J. and Orie, V. K. and Williams, T. and Baker, M. R. and De Oliveira, H. M. and Polvikoski, T. and Silsby, M. and Menon, P. and others},
  title   = {{TDP-43 proteinopathies: a new wave of neurodegenerative diseases}},
  journal = {Journal of neurology, neurosurgery, and psychiatry},
  year    = {2020},
  doi     = {10.1136/jnnp-2020-322983},
  pmid    = {33177049},
  url     = {https://doi.org/10.1136/jnnp-2020-322983}
}

@article{dormann2010-20606625,
  author  = {Dormann, D. and Rodde, R. and Edbauer, D. and Bentmann, E. and Fischer, I. and Hruscha, A. and Than, M. E. and Mackenzie, I. R. and others},
  title   = {{ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import}},
  journal = {The EMBO journal},
  year    = {2010},
  doi     = {10.1038/emboj.2010.143},
  pmid    = {20606625},
  url     = {https://doi.org/10.1038/emboj.2010.143}
}

@article{johnson2009-19465477,
  author  = {Johnson, B. S. and Snead, D. and Lee, J. J. and McCaffery, J. M. and Shorter, J. and Gitler, A. D.},
  title   = {{TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity}},
  journal = {The Journal of biological chemistry},
  year    = {2009},
  doi     = {10.1074/jbc.m109.010264},
  pmid    = {19465477},
  url     = {https://doi.org/10.1074/jbc.m109.010264}
}

@article{martin2006-16399671,
  author  = {Martin, L. J. and Pan, Y. and Price, A. C. and Sterling, W. and Copeland, N. G. and Jenkins, N. A. and Price, D. L. and Lee, M. K.},
  title   = {{Parkinson's disease alpha-synuclein transgenic mice develop neuronal mitochondrial degeneration and cell death}},
  journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year    = {2006},
  doi     = {10.1523/jneurosci.4308-05.2006},
  pmid    = {16399671},
  url     = {https://doi.org/10.1523/jneurosci.4308-05.2006}
}

@article{lagiertourenne2013-24170860,
  author  = {Lagier-Tourenne, C. and Baughn, M. and Rigo, F. and Sun, S. and Liu, P. and Li, H. R. and Jiang, J. and Watt, A. T. and others},
  title   = {{Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {2013},
  doi     = {10.1073/pnas.1318835110},
  pmid    = {24170860},
  url     = {https://doi.org/10.1073/pnas.1318835110}
}

@article{xu2010-20702714,
  author  = {Xu, Y. F. and Gendron, T. F. and Zhang, Y. J. and Lin, W. L. and D'Alton, S. and Sheng, H. and Casey, M. C. and Tong, J. and others},
  title   = {{Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice}},
  journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year    = {2010},
  doi     = {10.1523/jneurosci.1630-10.2010},
  pmid    = {20702714},
  url     = {https://doi.org/10.1523/jneurosci.1630-10.2010}
}

@article{smith2012-22608501,
  author  = {Smith, K. R. and Damiano, J. and Franceschetti, S. and Carpenter, S. and Canafoglia, L. and Morbin, M. and Rossi, G. and Pareyson, D. and others},
  title   = {{Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage}},
  journal = {American journal of human genetics},
  year    = {2012},
  doi     = {10.1016/j.ajhg.2012.04.021},
  pmid    = {22608501},
  url     = {https://doi.org/10.1016/j.ajhg.2012.04.021}
}

@article{arnold2013-23382207,
  author  = {Arnold, E. S. and Ling, S. C. and Huelga, S. C. and Lagier-Tourenne, C. and Polymenidou, M. and Ditsworth, D. and Kordasiewicz, H. B. and McAlonis-Downes, M. and others},
  title   = {{ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {2013},
  doi     = {10.1073/pnas.1222809110},
  pmid    = {23382207},
  url     = {https://doi.org/10.1073/pnas.1222809110}
}

@article{zhang2007-17898224,
  author  = {Zhang, Y. J. and Xu, Y. F. and Dickey, C. A. and Buratti, E. and Baralle, F. and Bailey, R. and Pickering-Brown, S. and Dickson, D. and others},
  title   = {{Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43}},
  journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year    = {2007},
  doi     = {10.1523/jneurosci.3421-07.2007},
  pmid    = {17898224},
  url     = {https://doi.org/10.1523/jneurosci.3421-07.2007}
}

@article{valentino2025-40091616,
  author  = {Valentino, Rebecca R. and Koga, Shunsuke and Soto‐Beasley, Alexandra I. and Ono, Daisuke and Wieczorek, Mikolaj A. and Johnson, Patrick W. and White, Launia J. and Watkins, Molly M. and others},
  title   = {{Genome-wide association study of neuropathological features in Lewy body disease}},
  journal = {Brain},
  year    = {2025},
  doi     = {10.1093/brain/awaf105},
  pmid    = {40091616},
  url     = {https://doi.org/10.1093/brain/awaf105}
}

@article{buchan2013-23791177,
  author  = {Buchan, JR. and Kolaitis, R. M. and Taylor, J. P. and Parker, R.},
  title   = {{Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function}},
  journal = {Cell},
  year    = {2013},
  doi     = {10.1016/j.cell.2013.05.037},
  pmid    = {23791177},
  url     = {https://doi.org/10.1016/j.cell.2013.05.037}
}

@article{king2012-22445064,
  author  = {King, O. D. and Gitler, A. D. and Shorter, J.},
  title   = {{The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease}},
  journal = {Brain research},
  year    = {2012},
  doi     = {10.1016/j.brainres.2012.01.016},
  pmid    = {22445064},
  url     = {https://doi.org/10.1016/j.brainres.2012.01.016}
}

@article{wen2014-25521377,
  author  = {Wen, X. and Tan, W. and Westergard, T. and Krishnamurthy, K. and Markandaiah, S. S. and Shi, Y. and Lin, S. and Shneider, N. A. and others},
  title   = {{Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death}},
  journal = {Neuron},
  year    = {2014},
  doi     = {10.1016/j.neuron.2014.12.010},
  pmid    = {25521377},
  url     = {https://doi.org/10.1016/j.neuron.2014.12.010}
}

@article{bertram2005-15931380,
  author  = {Bertram, L. and Tanzi, R. E.},
  title   = {{The genetic epidemiology of neurodegenerative disease}},
  journal = {The Journal of clinical investigation},
  year    = {2005},
  doi     = {10.1172/jci24761},
  pmid    = {15931380},
  url     = {https://doi.org/10.1172/jci24761}
}

@article{sun2011-21541367,
  author  = {Sun, Z. and Diaz, Z. and Fang, X. and Hart, M. P. and Chesi, A. and Shorter, J. and Gitler, A. D.},
  title   = {{Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS}},
  journal = {PLoS biology},
  year    = {2011},
  doi     = {10.1371/journal.pbio.1000614},
  pmid    = {21541367},
  url     = {https://doi.org/10.1371/journal.pbio.1000614}
}

@article{igaz2011-21206091,
  author  = {Igaz, L. M. and Kwong, L. K. and Lee, E. B. and Chen-Plotkin, A. and Swanson, E. and Unger, T. and Malunda, J. and Xu, Y. and others},
  title   = {{Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice}},
  journal = {The Journal of clinical investigation},
  year    = {2011},
  doi     = {10.1172/jci44867},
  pmid    = {21206091},
  url     = {https://doi.org/10.1172/jci44867}
}

@article{bugiani1999-10374757,
  author  = {Bugiani, O. and Murrell, JR. and Giaccone, G. and Hasegawa, M. and Ghigo, G. and Tabaton, M. and Morbin, M. and Primavera, A. and others},
  title   = {{Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau}},
  journal = {Journal of neuropathology and experimental neurology},
  year    = {1999},
  doi     = {10.1097/00005072-199906000-00011},
  pmid    = {10374757},
  url     = {https://doi.org/10.1097/00005072-199906000-00011}
}

@article{gunadi2026-88426919,
  author  = {Gunadi, S. G. A. and Fitrah, Y. A. and Soraya, G. V. and Jannah, A. R. and Sompa, A. W. and Basri, M. I. and Limoa, L. T. and Hara, N. and others},
  title   = {{Clinical Phenotype of Apoe Ɛ4 Carriers In Patients With Vascular Dementia: A Cross-Sectional Study From Indonesia}},
  journal = {F1000Res},
  year    = {2026},
  doi     = {10.12688/f1000research.188901.1},
  url     = {https://doi.org/10.12688/f1000research.188901.1}
}

@article{ferrante1997-9349552,
  author  = {Ferrante, R. J. and Browne, S. E. and Shinobu, L. A. and Bowling, A. C. and Baik, M. J. and MacGarvey, U. and Kowall, N. W. and Brown, R. H. and others},
  title   = {{Evidence of increased oxidative damage in both sporadic and familial amyotrophic lateral sclerosis}},
  journal = {Journal of neurochemistry},
  year    = {1997},
  doi     = {10.1046/j.1471-4159.1997.69052064.x},
  pmid    = {9349552},
  url     = {https://doi.org/10.1046/j.1471-4159.1997.69052064.x}
}

@article{sidransky2012-23079555,
  author  = {Sidransky, E. and Lopez, G.},
  title   = {{The link between the GBA gene and parkinsonism}},
  journal = {The Lancet. Neurology},
  year    = {2012},
  doi     = {10.1016/s1474-4422(12)70190-4},
  pmid    = {23079555},
  url     = {https://doi.org/10.1016/s1474-4422(12)70190-4}
}

@article{nuytemans2010-20506312,
  author  = {Nuytemans, K. and Theuns, J. and Cruts, M. and Van Broeckhoven, C.},
  title   = {{Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update}},
  journal = {Human mutation},
  year    = {2010},
  doi     = {10.1002/humu.21277},
  pmid    = {20506312},
  url     = {https://doi.org/10.1002/humu.21277}
}

@article{dsouza1999-10318930,
  author  = {D'Souza, I. and Poorkaj, P. and Hong, M. and Nochlin, D. and Lee, V. M. and Bird, T. D. and Schellenberg, G. D.},
  title   = {{Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {1999},
  doi     = {10.1073/pnas.96.10.5598},
  pmid    = {10318930},
  url     = {https://doi.org/10.1073/pnas.96.10.5598}
}

@article{foster1997-9189031,
  author  = {Foster, N. L. and Wilhelmsen, K. and Sima, A. A. and Jones, M. Z. and D'Amato, C. J. and Gilman, S.},
  title   = {{Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants}},
  journal = {Annals of neurology},
  year    = {1997},
  doi     = {10.1002/ana.410410606},
  pmid    = {9189031},
  url     = {https://doi.org/10.1002/ana.410410606}
}

@article{vandamme2008-18378771,
  author  = {Van Damme, P. and Van Hoecke, A. and Lambrechts, D. and Vanacker, P. and Bogaert, E. and van Swieten, J. and Carmeliet, P. and Van Den Bosch, L. and others},
  title   = {{Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival}},
  journal = {The Journal of cell biology},
  year    = {2008},
  doi     = {10.1083/jcb.200712039},
  pmid    = {18378771},
  url     = {https://doi.org/10.1083/jcb.200712039}
}

@article{clark1998-9789048,
  author  = {Clark, L. N. and Poorkaj, P. and Wszolek, Z. and Geschwind, D. H. and Nasreddine, Z. S. and Miller, B. and Li, D. and Payami, H. and others},
  title   = {{Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {1998},
  doi     = {10.1073/pnas.95.22.13103},
  pmid    = {9789048},
  url     = {https://doi.org/10.1073/pnas.95.22.13103}
}

@article{gomezbenito2020-32390826,
  author  = {Gómez-Benito, M. and Granado, N. and García-Sanz, P. and Michel, A. and Dumoulin, M. and Moratalla, R.},
  title   = {{Modeling Parkinson's Disease With the Alpha-Synuclein Protein}},
  journal = {Frontiers in pharmacology},
  year    = {2020},
  doi     = {10.3389/fphar.2020.00356},
  pmid    = {32390826},
  url     = {https://doi.org/10.3389/fphar.2020.00356}
}

@article{prasad2019-30837838,
  author  = {Prasad, A. and Bharathi, V. and Sivalingam, V. and Girdhar, A. and Patel, B. K.},
  title   = {{Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis}},
  journal = {Frontiers in molecular neuroscience},
  year    = {2019},
  doi     = {10.3389/fnmol.2019.00025},
  pmid    = {30837838},
  url     = {https://doi.org/10.3389/fnmol.2019.00025}
}

@article{ryan2018-29358076,
  author  = {Ryan, V. H. and Dignon, G. L. and Zerze, G. H. and Chabata, C. V. and Silva, R. and Conicella, A. E. and Amaya, J. and Burke, K. A. and others},
  title   = {{Mechanistic View of hnRNPA2 Low-Complexity Domain Structure, Interactions, and Phase Separation Altered by Mutation and Arginine Methylation}},
  journal = {Molecular cell},
  year    = {2018},
  doi     = {10.1016/j.molcel.2017.12.022},
  pmid    = {29358076},
  url     = {https://doi.org/10.1016/j.molcel.2017.12.022}
}

@article{kabashi2010-19959528,
  author  = {Kabashi, E. and Lin, L. and Tradewell, M. L. and Dion, P. A. and Bercier, V. and Bourgouin, P. and Rochefort, D. and Bel Hadj, S. and others},
  title   = {{Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo}},
  journal = {Human molecular genetics},
  year    = {2010},
  doi     = {10.1093/hmg/ddp534},
  pmid    = {19959528},
  url     = {https://doi.org/10.1093/hmg/ddp534}
}

@article{strang2019-30742061,
  author  = {Strang, K. H. and Golde, T. E. and Giasson, B. I.},
  title   = {{MAPT mutations, tauopathy, and mechanisms of neurodegeneration}},
  journal = {Laboratory investigation; a journal of technical methods and pathology},
  year    = {2019},
  doi     = {10.1038/s41374-019-0197-x},
  pmid    = {30742061},
  url     = {https://doi.org/10.1038/s41374-019-0197-x}
}

@article{uchikado2006-16825955,
  author  = {Uchikado, H. and Lin, W. L. and DeLucia, M. W. and Dickson, D. W.},
  title   = {{Alzheimer disease with amygdala Lewy bodies: a distinct form of alpha-synucleinopathy}},
  journal = {Journal of neuropathology and experimental neurology},
  year    = {2006},
  doi     = {10.1097/01.jnen.0000225908.90052.07},
  pmid    = {16825955},
  url     = {https://doi.org/10.1097/01.jnen.0000225908.90052.07}
}

@article{joutel2010-20071773,
  author  = {Joutel, A. and Monet-Leprêtre, M. and Gosele, C. and Baron-Menguy, C. and Hammes, A. and Schmidt, S. and Lemaire-Carrette, B. and Domenga, V. and others},
  title   = {{Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease}},
  journal = {The Journal of clinical investigation},
  year    = {2010},
  doi     = {10.1172/jci39733},
  pmid    = {20071773},
  url     = {https://doi.org/10.1172/jci39733}
}

@article{alchalabi2012-22903397,
  author  = {Al-Chalabi, A. and Jones, A. and Troakes, C. and King, A. and Al-Sarraj, S. and van den Berg, L. H.},
  title   = {{The genetics and neuropathology of amyotrophic lateral sclerosis}},
  journal = {Acta neuropathologica},
  year    = {2012},
  doi     = {10.1007/s00401-012-1022-4},
  pmid    = {22903397},
  url     = {https://doi.org/10.1007/s00401-012-1022-4}
}

@article{mirfakhar2026-41916975,
  author  = {Mirfakhar, Farzaneh Sadat and Marsh, Jacob A. and Sato, Chihiro and Schache, Kylie J. and Minaya, Miguel and Dolle, Roland E. and Pak, Stephen C. and Silverman, Gary A. and others},
  title   = {{A pathogenic Tau mutation drives autophagy-lysosome dysfunction that limits Tau degradation in a model of frontotemporal dementia}},
  journal = {Nature Communications},
  year    = {2026},
  doi     = {10.1038/s41467-026-70473-5},
  pmid    = {41916975},
  url     = {https://doi.org/10.1038/s41467-026-70473-5}
}

@article{iqbal2016-26635213,
  author  = {Iqbal, K. and Liu, F. and Gong, C. X.},
  title   = {{Tau and neurodegenerative disease: the story so far}},
  journal = {Nature reviews. Neurology},
  year    = {2016},
  doi     = {10.1038/nrneurol.2015.225},
  pmid    = {26635213},
  url     = {https://doi.org/10.1038/nrneurol.2015.225}
}

@article{schapira2011-21626550,
  author  = {Schapira, A. H. and Jenner, P.},
  title   = {{Etiology and pathogenesis of Parkinson's disease}},
  journal = {Movement disorders : official journal of the Movement Disorder Society},
  year    = {2011},
  doi     = {10.1002/mds.23732},
  pmid    = {21626550},
  url     = {https://doi.org/10.1002/mds.23732}
}

@article{spillantini1998-9786340,
  author  = {Spillantini, M. G. and Goedert, M.},
  title   = {{Tau protein pathology in neurodegenerative diseases}},
  journal = {Trends in neurosciences},
  year    = {1998},
  doi     = {10.1016/s0166-2236(98)01337-x},
  pmid    = {9786340},
  url     = {https://doi.org/10.1016/s0166-2236(98)01337-x}
}

@article{podewils2005-15781953,
  author  = {Podewils, L. J. and Guallar, E. and Kuller, L. H. and Fried, L. P. and Lopez, O. L. and Carlson, M. and Lyketsos, C. G.},
  title   = {{Physical activity, APOE genotype, and dementia risk: findings from the Cardiovascular Health Cognition Study}},
  journal = {American journal of epidemiology},
  year    = {2005},
  doi     = {10.1093/aje/kwi092},
  pmid    = {15781953},
  url     = {https://doi.org/10.1093/aje/kwi092}
}

@article{taniguchi2005-15611092,
  author  = {Taniguchi, S. and Suzuki, N. and Masuda, M. and Hisanaga, S. and Iwatsubo, T. and Goedert, M. and Hasegawa, M.},
  title   = {{Inhibition of heparin-induced tau filament formation by phenothiazines, polyphenols, and porphyrins}},
  journal = {The Journal of biological chemistry},
  year    = {2005},
  doi     = {10.1074/jbc.m408714200},
  pmid    = {15611092},
  url     = {https://doi.org/10.1074/jbc.m408714200}
}

@article{shen2007-17197420,
  author  = {Shen, J. and Kelleher, R. J.},
  title   = {{The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {2007},
  doi     = {10.1073/pnas.0608332104},
  pmid    = {17197420},
  url     = {https://doi.org/10.1073/pnas.0608332104}
}

@article{lee2006-17015225,
  author  = {Lee, V. M. and Trojanowski, J. Q.},
  title   = {{Mechanisms of Parkinson's disease linked to pathological alpha-synuclein: new targets for drug discovery}},
  journal = {Neuron},
  year    = {2006},
  doi     = {10.1016/j.neuron.2006.09.026},
  pmid    = {17015225},
  url     = {https://doi.org/10.1016/j.neuron.2006.09.026}
}

@article{paulson2018-29325606,
  author  = {Paulson, H.},
  title   = {{Repeat expansion diseases}},
  journal = {Handbook of clinical neurology},
  year    = {2018},
  doi     = {10.1016/b978-0-444-63233-3.00009-9},
  pmid    = {29325606},
  url     = {https://doi.org/10.1016/b978-0-444-63233-3.00009-9}
}

@article{hasegawa1998-9824291,
  author  = {Hasegawa, M. and Smith, M. J. and Goedert, M.},
  title   = {{Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly}},
  journal = {FEBS letters},
  year    = {1998},
  doi     = {10.1016/s0014-5793(98)01217-4},
  pmid    = {9824291},
  url     = {https://doi.org/10.1016/s0014-5793(98)01217-4}
}

@article{dickson2011-21720721,
  author  = {Dickson, D. W. and Kouri, N. and Murray, M. E. and Josephs, K. A.},
  title   = {{Neuropathology of frontotemporal lobar degeneration-tau (FTLD-tau)}},
  journal = {Journal of molecular neuroscience : MN},
  year    = {2011},
  doi     = {10.1007/s12031-011-9589-0},
  pmid    = {21720721},
  url     = {https://doi.org/10.1007/s12031-011-9589-0}
}

@article{deng2014-24840975,
  author  = {Deng, H. and Gao, K. and Jankovic, J.},
  title   = {{The role of FUS gene variants in neurodegenerative diseases}},
  journal = {Nature reviews. Neurology},
  year    = {2014},
  doi     = {10.1038/nrneurol.2014.78},
  pmid    = {24840975},
  url     = {https://doi.org/10.1038/nrneurol.2014.78}
}

@article{winklhofer2008-18216876,
  author  = {Winklhofer, K. F. and Tatzelt, J. and Haass, C.},
  title   = {{The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases}},
  journal = {The EMBO journal},
  year    = {2008},
  doi     = {10.1038/sj.emboj.7601930},
  pmid    = {18216876},
  url     = {https://doi.org/10.1038/sj.emboj.7601930}
}

@article{boyanova2025-40856010,
  author  = {Boyanova, Sevda Tomova and Banks, Gareth T. and Lipina, Tatiana V. and Bains, Rasneer Sonia and Forrest, Hamish and Stewart, Michelle E. and Carcolé, Mireia and Milioto, Carmelo and others},
  title   = {{Multi-modal comparative phenotyping of knock-in mouse models of frontotemporal dementia/amyotrophic lateral sclerosis}},
  journal = {Disease Models \& Mechanisms},
  year    = {2025},
  doi     = {10.1242/dmm.052324},
  pmid    = {40856010},
  url     = {https://doi.org/10.1242/dmm.052324}
}

@article{jensen1998-9756856,
  author  = {Jensen, P. H. and Nielsen, M. S. and Jakes, R. and Dotti, C. G. and Goedert, M.},
  title   = {{Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation}},
  journal = {The Journal of biological chemistry},
  year    = {1998},
  doi     = {10.1074/jbc.273.41.26292},
  pmid    = {9756856},
  url     = {https://doi.org/10.1074/jbc.273.41.26292}
}

@article{hannan2018-29398703,
  author  = {Hannan, A. J.},
  title   = {{Tandem repeats mediating genetic plasticity in health and disease}},
  journal = {Nature reviews. Genetics},
  year    = {2018},
  doi     = {10.1038/nrg.2017.115},
  pmid    = {29398703},
  url     = {https://doi.org/10.1038/nrg.2017.115}
}

@article{neary2005-16239184,
  author  = {Neary, D. and Snowden, J. and Mann, D.},
  title   = {{Frontotemporal dementia}},
  journal = {The Lancet. Neurology},
  year    = {2005},
  doi     = {10.1016/s1474-4422(05)70223-4},
  pmid    = {16239184},
  url     = {https://doi.org/10.1016/s1474-4422(05)70223-4}
}

@article{lee2004-14985429,
  author  = {Lee, H. J. and Khoshaghideh, F. and Patel, S. and Lee, S. J.},
  title   = {{Clearance of alpha-synuclein oligomeric intermediates via the lysosomal degradation pathway}},
  journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year    = {2004},
  doi     = {10.1523/jneurosci.3809-03.2004},
  pmid    = {14985429},
  url     = {https://doi.org/10.1523/jneurosci.3809-03.2004}
}

@article{acostauribe2026-41586258,
  author  = {Acosta‐Uribe, Juliana and Piña‐Escudero, Stefanie Danielle and Cochran, J. Nicholas and Taylor, Jared W. and Castruita, P. Alejandra and Jonson, Caroline and Barinaga, Erin A. and Roberts, Kevin and others},
  title   = {{Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations}},
  journal = {npj Dementia},
  year    = {2026},
  doi     = {10.1038/s44400-025-00025-z},
  pmid    = {41586258},
  url     = {https://doi.org/10.1038/s44400-025-00025-z}
}

@article{vonbergen2001-11606569,
  author  = {von Bergen, M. and Barghorn, S. and Li, L. and Marx, A. and Biernat, J. and Mandelkow, E. M. and Mandelkow, E.},
  title   = {{Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure}},
  journal = {The Journal of biological chemistry},
  year    = {2001},
  doi     = {10.1074/jbc.m105196200},
  pmid    = {11606569},
  url     = {https://doi.org/10.1074/jbc.m105196200}
}

@article{vanderputten2000-10934251,
  author  = {van der Putten, H. and Wiederhold, K. H. and Probst, A. and Barbieri, S. and Mistl, C. and Danner, S. and Kauffmann, S. and Hofele, K. and others},
  title   = {{Neuropathology in mice expressing human alpha-synuclein}},
  journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year    = {2000},
  doi     = {10.1523/jneurosci.20-16-06021.2000},
  pmid    = {10934251},
  url     = {https://doi.org/10.1523/jneurosci.20-16-06021.2000}
}

@article{tresse2010-20104022,
  author  = {Tresse, E. and Salomons, F. A. and Vesa, J. and Bott, L. C. and Kimonis, V. and Yao, T. P. and Dantuma, N. P. and Taylor, J. P.},
  title   = {{VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD}},
  journal = {Autophagy},
  year    = {2010},
  doi     = {10.4161/auto.6.2.11014},
  pmid    = {20104022},
  url     = {https://doi.org/10.4161/auto.6.2.11014}
}

@article{galvin1999-10557341,
  author  = {Galvin, J. E. and Uryu, K. and Lee, V. M. and Trojanowski, J. Q.},
  title   = {{Axon pathology in Parkinson's disease and Lewy body dementia hippocampus contains alpha-, beta-, and gamma-synuclein}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {1999},
  doi     = {10.1073/pnas.96.23.13450},
  pmid    = {10557341},
  url     = {https://doi.org/10.1073/pnas.96.23.13450}
}

@article{imaizumi2012-23039195,
  author  = {Imaizumi, Y. and Okada, Y. and Akamatsu, W. and Koike, M. and Kuzumaki, N. and Hayakawa, H. and Nihira, T. and Kobayashi, T. and others},
  title   = {{Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue}},
  journal = {Molecular brain},
  year    = {2012},
  doi     = {10.1186/1756-6606-5-35},
  pmid    = {23039195},
  url     = {https://doi.org/10.1186/1756-6606-5-35}
}

@article{ostrerovagolts2000-10934254,
  author  = {Ostrerova-Golts, N. and Petrucelli, L. and Hardy, J. and Lee, J. M. and Farer, M. and Wolozin, B.},
  title   = {{The A53T alpha-synuclein mutation increases iron-dependent aggregation and toxicity}},
  journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year    = {2000},
  doi     = {10.1523/jneurosci.20-16-06048.2000},
  pmid    = {10934254},
  url     = {https://doi.org/10.1523/jneurosci.20-16-06048.2000}
}

@article{wood1999-10391881,
  author  = {Wood, S. J. and Wypych, J. and Steavenson, S. and Louis, J. C. and Citron, M. and Biere, A. L.},
  title   = {{alpha-synuclein fibrillogenesis is nucleation-dependent. Implications for the pathogenesis of Parkinson's disease}},
  journal = {The Journal of biological chemistry},
  year    = {1999},
  doi     = {10.1074/jbc.274.28.19509},
  pmid    = {10391881},
  url     = {https://doi.org/10.1074/jbc.274.28.19509}
}

@article{tu1996-8610185,
  author  = {Tu, P. H. and Raju, P. and Robinson, K. A. and Gurney, M. E. and Trojanowski, J. Q. and Lee, V. M.},
  title   = {{Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {1996},
  doi     = {10.1073/pnas.93.7.3155},
  pmid    = {8610185},
  url     = {https://doi.org/10.1073/pnas.93.7.3155}
}

@article{ashok2025-40238886,
  author  = {Ashok, Cheemala and Kimble, Amy L. and Burrage, Emily Nicole and Helming, Stephen B. and Tyburski, Jordan D. and Leclair, Nathan K. and Omar, Omar M. and Zuberi, Aamir R. and others},
  title   = {{Amyotrophic lateral sclerosis and frontotemporal dementia mutation reduces endothelial TDP-43 and causes blood-brain barrier defects}},
  journal = {Science Advances},
  year    = {2025},
  doi     = {10.1126/sciadv.ads0505},
  pmid    = {40238886},
  url     = {https://doi.org/10.1126/sciadv.ads0505}
}

@article{bouzigues2025-40673371,
  author  = {Bouzigues, Arabella and Le Du, Vincent and Joulot, Matthieu and Peysson, Ninon and Houot, Marion and Béranger, Benoît and Russell, Lucy Louise and Foster, Phoebe H. and others},
  title   = {{Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia}},
  journal = {Alzheimer s \& Dementia},
  year    = {2025},
  doi     = {10.1002/alz.70367},
  pmid    = {40673371},
  url     = {https://doi.org/10.1002/alz.70367}
}

@article{graafland2026-41697408,
  author  = {Graafland, Charlotte H and Seelaar, Harro and Panman, Jessica L. and Van Swieten, John Cornelis and Bunnik, Eline Maria and Kaat, Laura Donker},
  title   = {{Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study}},
  journal = {Human Genetics},
  year    = {2026},
  doi     = {10.1007/s00439-025-02795-1},
  pmid    = {41697408},
  url     = {https://doi.org/10.1007/s00439-025-02795-1}
}

@article{hou2025-40309932,
  author  = {Hou, Xu and Heckman, Michael G. and Fiesel, Fabienne C. and Koga, Shunsuke and Soto‐Beasley, Alexandra I. and Watzlawik, Jens O. and Zhao, Jing and Valentino, Rebecca R. and others},
  title   = {{Genome‐wide association analysis identifies APOE as a mitophagy modifier in Lewy body disease}},
  journal = {Alzheimer s \& Dementia},
  year    = {2025},
  doi     = {10.1002/alz.70198},
  pmid    = {40309932},
  url     = {https://doi.org/10.1002/alz.70198}
}

@article{ambaw2025-40922380,
  author  = {Ambaw, Yohannes Abere and Ljubenkov, Peter Alexander and Singh, Shubham and Hamed, Abdi and Boland, Sebastian and Boxer, Adam L. and Walther, Tobias C. and Farese, Robert V.},
  title   = {{Plasma lipidome dysregulation in frontotemporal dementia reveals shared, genotype‐specific, and severity‐linked alterations}},
  journal = {Alzheimer s \& Dementia},
  year    = {2025},
  doi     = {10.1002/alz.70631},
  pmid    = {40922380},
  url     = {https://doi.org/10.1002/alz.70631}
}

@article{beharry2025-40794874,
  author  = {Beharry, Aruun and Ward, Cian and Moore, Henry and Hoffman, Kyle S. and Chan, Patricia P. and Lowe, Todd M. and O’Donoghue, Patrick},
  title   = {{High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs}},
  journal = {Nucleic Acids Research},
  year    = {2025},
  doi     = {10.1093/nar/gkaf730},
  pmid    = {40794874},
  url     = {https://doi.org/10.1093/nar/gkaf730}
}

@article{fahy2025-39801084,
  author  = {Fahy, Neil and Hayes, Oliver S and Greaves, Caroline V. and Goldsmith, Sophie and Brotherhood, Emilie and Rohrer, Jonathan Daniel and Harding, Emma and Stott, Joshua C. H.},
  title   = {{The experience of “at‐risk” status for familial frontotemporal dementia (fFTD) and its impact on reproductive decision‐making: A qualitative study}},
  journal = {Journal of Genetic Counseling},
  year    = {2025},
  doi     = {10.1002/jgc4.2000},
  pmid    = {39801084},
  url     = {https://doi.org/10.1002/jgc4.2000}
}

@article{salzano2025-40972833,
  author  = {Salzano, Sara and Bertasini, Chiara and Haghighi, Shima Tavakolian and Lundkvist, Johan and Wahlberg, Lars U. and Chiamulera, Cristiano and Vattemi, Gaetano Nicola Alfio and Gardoni, Fabrizio and others},
  title   = {{Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies}},
  journal = {Pharmacological Research},
  year    = {2025},
  doi     = {10.1016/j.phrs.2025.107957},
  pmid    = {40972833},
  url     = {https://doi.org/10.1016/j.phrs.2025.107957}
}

@article{graafland2025-40502924,
  author  = {Graafland, Charlotte H and Kaat, Laura Donker and Richard, Edo and Van Swieten, John Cornelis and Seelaar, Harro and Bunnik, Eline Maria},
  title   = {{Ethics of disclosure of onset‐predictive biomarker test results for genetic frontotemporal dementia in the research context}},
  journal = {Alzheimer s \& Dementia Diagnosis Assessment \& Disease Monitoring},
  year    = {2025},
  doi     = {10.1002/dad2.70133},
  pmid    = {40502924},
  url     = {https://doi.org/10.1002/dad2.70133}
}

@article{lozupone2025-40804782,
  author  = {Lozupone, Madia and Dibello, Vittorio and Sardone, Rodolfo and Castellana, Fabio and Zupo, Roberta and Lampignano, Luisa and Bortone, Ilaria and Sborgia, Giancarlo and others},
  title   = {{Novel approaches for the treatment of frontotemporal dementia: is there hope for the future?}},
  journal = {Expert Review of Neurotherapeutics},
  year    = {2025},
  doi     = {10.1080/14737175.2025.2546867},
  pmid    = {40804782},
  url     = {https://doi.org/10.1080/14737175.2025.2546867}
}

@article{spillantini2000-11193145,
  author  = {Spillantini, M. G. and Goedert, M.},
  title   = {{The alpha-synucleinopathies: Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy}},
  journal = {Annals of the New York Academy of Sciences},
  year    = {2000},
  doi     = {10.1111/j.1749-6632.2000.tb06900.x},
  pmid    = {11193145},
  url     = {https://doi.org/10.1111/j.1749-6632.2000.tb06900.x}
}

@article{palacino2025-069aac92,
  author  = {Palacino, Federica and Manganotti, Paolo and Benussi, Alberto},
  title   = {{Preclinical and Prodromal Frontotemporal Dementia: Challenges and Opportunities}},
  journal = {International Journal of Translational Medicine},
  year    = {2025},
  doi     = {10.3390/ijtm5040052},
  url     = {https://doi.org/10.3390/ijtm5040052}
}

@article{guo2025-40901664,
  author  = {Guo, Mengyao and Qin, Linyuan and Cai, Hanlin and Wang, Ruihan and Luo, Caimei and Yang, Feng and Feng, Shiyu and Gao, Hui and others},
  title   = {{Fluid biomarkers in familial frontotemporal dementia: progress and prospects}},
  journal = {Frontiers in Neurology},
  year    = {2025},
  doi     = {10.3389/fneur.2025.1663609},
  pmid    = {40901664},
  url     = {https://doi.org/10.3389/fneur.2025.1663609}
}

@article{javidnia2026-df90200c,
  author  = {Javidnia, S. and Karhunen, V. and Woolf, B. and Burgess, S. and Proitsi, P. and Velayudhan, L. and Bhattacharyya, S.},
  title   = {{Endocannabinoid System Genes in Dementia: A Systematic Mendelian Randomization Study of Functional Variants and Tissue-Specific Expression Across Clinical, Molecular, and Neuroimaging Phenotypes}},
  journal = {medRxiv (preprint)},
  year    = {2026},
  doi     = {10.64898/2026.09.08.26362514},
  url     = {https://doi.org/10.64898/2026.09.08.26362514}
}

@article{beele2026-11d44251,
  author  = {Beele, P. and Veldink, J. and van Rheenen, W.},
  title   = {{The value of a family history to distinguish monogenic from polygenic amyotrophic lateral sclerosis}},
  journal = {medRxiv (preprint)},
  year    = {2026},
  doi     = {10.64898/2026.09.16.26362994},
  url     = {https://doi.org/10.64898/2026.09.16.26362994}
}

@article{mejiagarcia2026-600a905d,
  author  = {Mejia-Garcia, A. and Valderrama-Carmona, P. and Zheng, T. M. and Wang, Z. and Tsao, H. M. and Jung, J. and Orozco, C. A. and Su, C. and others},
  title   = {{Phenome-wide and proteomic analysis of APOE alleles across different ancestries in the All of Us Research Program}},
  journal = {medRxiv},
  year    = {2026},
  doi     = {10.64898/2026.09.26.26364080},
  url     = {https://doi.org/10.64898/2026.09.26.26364080}
}