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@ARTICLE{Pottier:278068,
      author       = {Pottier, Cyril and Küçükali, Fahri and Baker, Matt and
                      Batzler, Anthony and Jenkins, Gregory D and van
                      Blitterswijk, Marka and Vicente, Cristina T and De Coster,
                      Wouter and Wynants, Sarah and Van de Walle, Pieter and Ross,
                      Owen A and Murray, Melissa E and Faura, Júlia and Haggarty,
                      Stephen J and van Rooij, Jeroen Gj and Mol, Merel O and
                      Hsiung, Ging-Yuek R and Graff, Caroline and Öijerstedt,
                      Linn and Neumann, Manuela and Asmann, Yan and McDonnell,
                      Shannon K and Baheti, Saurabh and Josephs, Keith A and
                      Whitwell, Jennifer L and Bieniek, Kevin F and Forsberg, Leah
                      and Heuer, Hilary and Lago, Argentina Lario and Geier, Ethan
                      G and Yokoyama, Jennifer S and Oddi, Alexis P and Flanagan,
                      Margaret and Mao, Qinwen and Hodges, John R and Kwok, John B
                      and Domoto-Reilly, Kimiko and Synofzik, Matthis and Wilke,
                      Carlo and Onyike, Chiadi and Dickerson, Bradford C and
                      Evers, Bret M and Dugger, Brittany N and Munoz, David G and
                      Keith, Julia and Zinman, Lorne and Rogaeva, Ekaterina and
                      Suh, EunRan and Gefen, Tamar and Geula, Changiz and
                      Weintraub, Sandra and Diehl-Schmid, Janine and Farlow,
                      Martin R and Edbauer, Dieter and Woodruff, Bryan K and
                      Caselli, Richard J and Donker Kaat, Laura L and Huey, Edward
                      D and Reiman, Eric M and Mead, Simon and King, Andrew and
                      Roeber, Sigrun and Nana, Alissa L and Ertekin-Taner, Nilufer
                      and Knopman, David S and Petersen, Ronald C and Petrucelli,
                      Leonard and Uitti, Ryan J and Wszolek, Zbigniew K and Ramos,
                      Eliana Marisa and Grinberg, Lea T and Tempini, Maria Luisa
                      Gorno and Rosen, Howard J and Spina, Salvatore and Piguet,
                      Olivier and Grossman, Murray and Trojanowski, John Q and
                      Keene, C Dirk and Jin, Lee-Way and Prudlo, Johannes and
                      Geschwind, Daniel H and Rissman, Robert A and Cruchaga,
                      Carlos and Ghetti, Bernardino and Halliday, Glenda M and
                      Beach, Thomas G and Serrano, Geidy E and Arzberger, Thomas
                      and Herms, Jochen and Boxer, Adam L and Honig, Lawrence S
                      and Vonsattel, Jean P and Lopez, Oscar L and Kofler, Julia
                      and White, Charles L and Gearing, Marla and Glass, Jonathan
                      and Rohrer, Jonathan D and Irwin, David J and Lee, Edward B
                      and Van Deerlin, Vivianna and Castellani, Rudolph and
                      Mesulam, Marsel M and Tartaglia, Maria C and Finger,
                      Elizabeth C and Troakes, Claire and Al-Sarraj, Safa and
                      Dalgard, Clifton L and Miller, Bruce L and Seelaar, Harro
                      and Graff-Radford, Neill R and Boeve, Bradley F and
                      Mackenzie, Ian Ra and van Swieten, John C and Seeley,
                      William W and Sleegers, Kristel and Dickson, Dennis W and
                      Biernacka, Joanna M and Rademakers, Rosa},
      title        = {{D}eciphering distinct genetic risk factors for
                      {FTLD}-{TDP} pathological subtypes via whole-genome
                      sequencing.},
      journal      = {Nature Communications},
      volume       = {16},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2025-00559},
      pages        = {3914},
      year         = {2025},
      abstract     = {Frontotemporal lobar degeneration with neuronal inclusions
                      of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal
                      neurodegenerative disorder with only a limited number of
                      risk loci identified. We report our comprehensive
                      genome-wide association study as part of the International
                      FTLD-TDP Whole-Genome Sequencing Consortium, including 985
                      patients and 3,153 controls compiled from 26
                      institutions/brain banks in North America, Europe and
                      Australia, and meta-analysis with the Dementia-seq cohort.
                      We confirm UNC13A as the strongest overall FTLD-TDP risk
                      factor and identify TNIP1 as a novel FTLD-TDP risk factor.
                      In subgroup analyzes, we further identify genome-wide
                      significant loci specific to each of the three main FTLD-TDP
                      pathological subtypes (A, B and C), as well as enrichment of
                      risk loci in distinct tissues, brain regions, and neuronal
                      subtypes, suggesting distinct disease aetiologies in each of
                      the subtypes. Rare variant analysis confirmed TBK1 and
                      identified C3AR1, SMG8, VIPR1, RBPJL, L3MBTL1 and ANO9, as
                      novel subtype-specific FTLD-TDP risk genes, further
                      highlighting the role of innate and adaptive immunity and
                      notch signaling pathway in FTLD-TDP, with potential
                      diagnostic and novel therapeutic implications.},
      keywords     = {Humans / Genome-Wide Association Study / Whole Genome
                      Sequencing / Risk Factors / Genetic Predisposition to
                      Disease / Male / Female / Frontotemporal Lobar Degeneration:
                      genetics / Frontotemporal Lobar Degeneration: pathology /
                      DNA-Binding Proteins: genetics / DNA-Binding Proteins:
                      metabolism / Aged / Middle Aged / Brain: pathology / Brain:
                      metabolism / Protein Serine-Threonine Kinases: genetics /
                      Cohort Studies / Nerve Tissue Proteins: genetics /
                      DNA-Binding Proteins (NLM Chemicals) / Protein
                      Serine-Threonine Kinases (NLM Chemicals) / TARDBP protein,
                      human (NLM Chemicals) / TBK1 protein, human (NLM Chemicals)
                      / Nerve Tissue Proteins (NLM Chemicals)},
      cin          = {AG Neumann / AG Gasser / AG Edbauer / AG Teipel / AG Herms},
      ddc          = {500},
      cid          = {I:(DE-2719)1210003 / I:(DE-2719)1210000 /
                      I:(DE-2719)1110004 / I:(DE-2719)1510100 /
                      I:(DE-2719)1110001},
      pnm          = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
                      Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40280976},
      pmc          = {pmc:PMC12032271},
      doi          = {10.1038/s41467-025-59216-0},
      url          = {https://pub.dzne.de/record/278068},
}