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18 p, 2.0 MB A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics / Nicolas, Gaël (Normandie University) ; Sévigny, Myriam (Laval University) ; Lecoquierre, François (Normandie University) ; Marguet, Florent (Normandie University) ; Deschênes, Andréanne (Laval University) ; del Pelaez, Maria Carment (Laval University) ; Feuillette, Sébastien (Normandie University) ; Audebrand, Anaïs (Laval University) ; Lecourtois, Magalie (Normandie University) ; Rousseau, Stéphane (Normandie University) ; Richard, Anne-Claire (Normandie University) ; Cassinari, Kévin (Normandie University) ; Deramecourt, Vincent (University of Lille) ; Duyckaerts, Charles (Hôpital de la Pitié-Salpêtrière) ; Boland, Anne (Université Paris-Saclay) ; Deleuze, Jean-François (Université Paris-Saclay) ; Meyer, Vincent (Université Paris-Saclay) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Gelpi, Ellen (Medical University of Vienna) ; Akiyama, Haruhiko (Tokyo Metropolitan Institute of Medical Science) ; Hasegawa, Masato (Tokyo Metropolitan Institute of Medical Science) ; Kawakami, Ito (Tokyo Metropolitan Institute of Medical Science) ; Wong, Tsz H. (Erasmus Medical Center) ; Van Rooij, Jeroen G. J. (Erasmus Medical Center) ; Van Swieten, John C. (Erasmus Medical Center) ; Campion, Dominique (Normandie University) ; Dutchak, Paul A. (Laval University) ; Wallon, David (Normandie University) ; Lavoie-Cardinal, Flavie (Laval University) ; Laquerrière, Annie (Normandie University) ; Rovelet-Lecrux, Anne (Normandie University) ; Sephton, Chantelle F. (Laval University) ; Universitat Autònoma de Barcelona
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotem‑poral lobar degeneration (FTLD)-FET, is characterized by protein aggregates consisting of the RNA-binding protein fused in sarcoma (FUS). [...]
2022 - 10.1186/s40478-022-01314-x
Acta neuropathologica communications, Vol. 10 (february 2022)  
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