A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics

Autor: Nicolas, Gaël, Sévigny, Myriam, Lecoquierre, François, Marguet, Florent, Deschênes, Andréanne, del Pelaez, Maria Carment, Feuillette, Sébastien, Audebrand, Anaïs, Lecourtois, Magalie, Rousseau, Stéphane, Richard, Anne-Claire, Cassinari, Kévin, Deramecourt, Vincent, Duyckaerts, Charles, Boland, Anne, Deleuze, Jean-François, Meyer, Vincent, Clarimón, Jordi, Gelpi, Ellen, Akiyama, Haruhiko, Hasegawa, Masato, Kawakami, Ito, Wong, Tsz H., Van Rooij, Jeroen G. J., Van Swieten, John C., Campion, Dominique, Dutchak, Paul A., Wallon, David, Lavoie-Cardinal, Flavie, Laquerrière, Annie, Rovelet-Lecrux, Anne, Sephton, Chantelle F., Universitat Autònoma de Barcelona

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Acta Neuropathologica Communications
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Acta neuropathologica communications, 10(1):20. BioMed Central Ltd.
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-18 (2022)

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, frontotemporal lobar degenerat

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